dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs641153
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:31946403 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.122732 (32486/264690, TOPMED)A=0.118198 (16560/140104, GnomAD)A=0.098338 (11428/116212, ExAC) (+ 18 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CFB : Missense Variant
- Publications
- 92 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 97982 | G=0.90020 | A=0.09980 | 0.816905 | 0.016513 | 0.166582 | 32 |
| European | Sub | 75636 | G=0.91089 | A=0.08911 | 0.83566 | 0.013882 | 0.150457 | 32 |
| African | Sub | 8922 | G=0.8078 | A=0.1922 | 0.655683 | 0.040126 | 0.304192 | 1 |
| African Others | Sub | 310 | G=0.768 | A=0.232 | 0.632258 | 0.096774 | 0.270968 | 5 |
| African American | Sub | 8612 | G=0.8092 | A=0.1908 | 0.656526 | 0.038086 | 0.305388 | 0 |
| Asian | Sub | 170 | G=0.900 | A=0.100 | 0.811765 | 0.011765 | 0.176471 | 0 |
| East Asian | Sub | 114 | G=0.939 | A=0.061 | 0.894737 | 0.017544 | 0.087719 | 2 |
| Other Asian | Sub | 56 | G=0.82 | A=0.18 | 0.642857 | 0.0 | 0.357143 | 1 |
| Latin American 1 | Sub | 508 | G=0.825 | A=0.175 | 0.688976 | 0.03937 | 0.271654 | 1 |
| Latin American 2 | Sub | 684 | G=0.923 | A=0.077 | 0.853801 | 0.008772 | 0.137427 | 0 |
| South Asian | Sub | 114 | G=0.877 | A=0.123 | 0.77193 | 0.017544 | 0.210526 | 0 |
| Other | Sub | 11948 | G=0.90367 | A=0.09633 | 0.822397 | 0.015065 | 0.162538 | 15 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.877268 | A=0.122732 |
| gnomAD - Genomes | Global | Study-wide | 140104 | G=0.881802 | A=0.118198 |
| gnomAD - Genomes | European | Sub | 75916 | G=0.91485 | A=0.08515 |
| gnomAD - Genomes | African | Sub | 41950 | G=0.80801 | A=0.19199 |
| gnomAD - Genomes | American | Sub | 13646 | G=0.90004 | A=0.09996 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3318 | G=0.9415 | A=0.0585 |
| gnomAD - Genomes | East Asian | Sub | 3124 | G=0.9353 | A=0.0647 |
| gnomAD - Genomes | Other | Sub | 2150 | G=0.8688 | A=0.1312 |
| ExAC | Global | Study-wide | 116212 | G=0.901662 | A=0.098338 |
| ExAC | Europe | Sub | 69936 | G=0.91668 | A=0.08332 |
| ExAC | Asian | Sub | 24780 | G=0.87692 | A=0.12308 |
| ExAC | American | Sub | 11460 | G=0.93656 | A=0.06344 |
| ExAC | African | Sub | 9164 | G=0.8105 | A=0.1895 |
| ExAC | Other | Sub | 872 | G=0.900 | A=0.100 |
| Allele Frequency Aggregator | Total | Global | 81628 | G=0.90512 | A=0.09488 |
| Allele Frequency Aggregator | European | Sub | 65552 | G=0.91125 | A=0.08875 |
| Allele Frequency Aggregator | Other | Sub | 10516 | G=0.90538 | A=0.09462 |
| Allele Frequency Aggregator | African | Sub | 4084 | G=0.8142 | A=0.1858 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 684 | G=0.923 | A=0.077 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 508 | G=0.825 | A=0.175 |
| Allele Frequency Aggregator | Asian | Sub | 170 | G=0.900 | A=0.100 |
| Allele Frequency Aggregator | South Asian | Sub | 114 | G=0.877 | A=0.123 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.90371 | A=0.09629 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.90364 | A=0.09636 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.8859 | A=0.1141 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.8376 | A=0.1624 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.9115 | A=0.0885 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.8569 | A=0.1431 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.9402 | A=0.0598 |
| 1000Genomes_30x | American | Sub | 980 | G=0.911 | A=0.089 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.8846 | A=0.1154 |
| 1000Genomes | African | Sub | 1322 | G=0.8275 | A=0.1725 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9425 | A=0.0575 |
| 1000Genomes | Europe | Sub | 1006 | G=0.9135 | A=0.0865 |
| 1000Genomes | South Asian | Sub | 978 | G=0.852 | A=0.148 |
| 1000Genomes | American | Sub | 694 | G=0.914 | A=0.086 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.9373 | A=0.0627 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.8978 | A=0.1022 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.9061 | A=0.0939 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.9120 | A=0.0880 |
| HapMap | Global | Study-wide | 1270 | G=0.8512 | A=0.1488 |
| HapMap | American | Sub | 556 | G=0.858 | A=0.142 |
| HapMap | African | Sub | 292 | G=0.774 | A=0.226 |
| HapMap | Asian | Sub | 248 | G=0.899 | A=0.101 |
| HapMap | Europe | Sub | 174 | G=0.891 | A=0.109 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.911 | A=0.089 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.868 | A=0.132 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.858 | A=0.142 |
| Qatari | Global | Study-wide | 216 | G=0.898 | A=0.102 |
| SGDP_PRJ | Global | Study-wide | 104 | G=0.462 | A=0.538 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.93 | A=0.07 |
| Siberian | Global | Study-wide | 6 | G=0.5 | A=0.5 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.31946403G>A |
| GRCh38.p14 chr 6 | NC_000006.12:g.31946403G>T |
| GRCh37.p13 chr 6 | NC_000006.11:g.31914180G>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.31914180G>T |
| C2 RefSeqGene (LRG_26) | NG_011730.1:g.23915G>A |
| C2 RefSeqGene (LRG_26) | NG_011730.1:g.23915G>T |
| CFB RefSeqGene (LRG_136) | NG_008191.1:g.5460G>A |
| CFB RefSeqGene (LRG_136) | NG_008191.1:g.5460G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3423830G>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3423830G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3423936G>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3423936G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.2:g.3202378G>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.2:g.3202378G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.1:g.3207974G>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.1:g.3207974G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.3194183G>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.3194183G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.3199768G>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.3199768G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.3247592G>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.3247592G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.3246890G>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.3246890G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.3288439G>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.3288439G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.3294024G>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.3294024G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.2:g.3251380A>G |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.2:g.3251380A>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.1:g.3257000A>G |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.1:g.3257000A>T |
Gene: CFB, complement factor B
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CFB transcript | NM_001710.6:c.95G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| complement factor B preproprotein | NP_001701.2:p.Arg32Gln | R (Arg) > Q (Gln) | Missense Variant |
| CFB transcript | NM_001710.6:c.95G>T | R [CGG] > L [CTG] | Coding Sequence Variant |
| complement factor B preproprotein | NP_001701.2:p.Arg32Leu | R (Arg) > L (Leu) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: A (allele ID:
31114
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000017453.4 | Factor B fast/slow polymorphism | Benign |
| RCV000017454.30 | BF*FA/S | Benign |
| RCV000017458.31 | Age related macular degeneration 14 | Protective |
| RCV000259759.4 | Atypical hemolytic-uremic syndrome | Benign |
| RCV000281261.4 | Complement component 2 deficiency | Likely-Benign |
| RCV000319518.5 | Macular degeneration | Benign-Likely-Benign |
| RCV000455762.7 | not specified | Benign |
| RCV001154197.3 | Atypical hemolytic-uremic syndrome with B factor anomaly | Benign |
| RCV001515636.7 | not provided | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.31946403= | NC_000006.12:g.31946403G>A | NC_000006.12:g.31946403G>T |
| GRCh37.p13 chr 6 | NC_000006.11:g.31914180= | NC_000006.11:g.31914180G>A | NC_000006.11:g.31914180G>T |
| C2 RefSeqGene (LRG_26) | NG_011730.1:g.23915= | NG_011730.1:g.23915G>A | NG_011730.1:g.23915G>T |
| CFB RefSeqGene (LRG_136) | NG_008191.1:g.5460= | NG_008191.1:g.5460G>A | NG_008191.1:g.5460G>T |
| CFB transcript | NM_001710.6:c.95= | NM_001710.6:c.95G>A | NM_001710.6:c.95G>T |
| CFB transcript | NM_001710.5:c.95= | NM_001710.5:c.95G>A | NM_001710.5:c.95G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3423830= | NT_113891.3:g.3423830G>A | NT_113891.3:g.3423830G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3423936= | NT_113891.2:g.3423936G>A | NT_113891.2:g.3423936G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.2:g.3202378= | NT_167248.2:g.3202378G>A | NT_167248.2:g.3202378G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 | NT_167248.1:g.3207974= | NT_167248.1:g.3207974G>A | NT_167248.1:g.3207974G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.3194183= | NT_167245.2:g.3194183G>A | NT_167245.2:g.3194183G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.3199768= | NT_167245.1:g.3199768G>A | NT_167245.1:g.3199768G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.3247592= | NT_167249.2:g.3247592G>A | NT_167249.2:g.3247592G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.3246890= | NT_167249.1:g.3246890G>A | NT_167249.1:g.3246890G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.3288439= | NT_167247.2:g.3288439G>A | NT_167247.2:g.3288439G>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.3294024= | NT_167247.1:g.3294024G>A | NT_167247.1:g.3294024G>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.2:g.3251380A>G | NT_167246.2:g.3251380= | NT_167246.2:g.3251380A>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 | NT_167246.1:g.3257000A>G | NT_167246.1:g.3257000= | NT_167246.1:g.3257000A>T |
| complement factor B preproprotein | NP_001701.2:p.Arg32= | NP_001701.2:p.Arg32Gln | NP_001701.2:p.Arg32Leu |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
121 SubSNP,
22 Frequency,
9 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss813940 | Aug 11, 2000 (83) |
| 2 | LEE | ss1521836 | Oct 13, 2000 (126) |
| 3 | KWOK | ss1955534 | Oct 18, 2000 (87) |
| 4 | PGA-UW-FHCRC | ss5606986 | Dec 12, 2002 (110) |
| 5 | PGA-UW-FHCRC | ss12674483 | Dec 05, 2003 (119) |
| 6 | SC_SNP | ss15724137 | Feb 27, 2004 (120) |
| 7 | CSHL-HAPMAP | ss17124061 | Feb 27, 2004 (120) |
| 8 | SSAHASNP | ss22369263 | Apr 05, 2004 (121) |
| 9 | SEQUENOM | ss24796283 | Sep 20, 2004 (123) |
| 10 | SI_MHC_SNP | ss52084838 | Oct 14, 2006 (127) |
| 11 | PERLEGEN | ss68971802 | May 16, 2007 (127) |
| 12 | ILLUMINA | ss74878120 | Dec 07, 2007 (129) |
| 13 | CORNELL | ss86272822 | Mar 23, 2008 (129) |
| 14 | BCMHGSC_JDW | ss93436823 | Mar 24, 2008 (129) |
| 15 | ILLUMINA-UK | ss116395555 | Feb 14, 2009 (130) |
| 16 | KRIBB_YJKIM | ss119361144 | Dec 01, 2009 (131) |
| 17 | SEATTLESEQ | ss159712119 | Dec 01, 2009 (131) |
| 18 | ILLUMINA | ss160771108 | Dec 01, 2009 (131) |
| 19 | COMPLETE_GENOMICS | ss166431405 | Jul 04, 2010 (134) |
| 20 | ILLUMINA | ss173995309 | Jul 04, 2010 (134) |
| 21 | BUSHMAN | ss201628301 | Jul 04, 2010 (134) |
| 22 | 1000GENOMES | ss222304984 | Jul 14, 2010 (132) |
| 23 | 1000GENOMES | ss233399979 | Jul 14, 2010 (132) |
| 24 | OMICIA | ss244317409 | Jun 16, 2010 (132) |
| 25 | OMIM-CURATED-RECORDS | ss263198085 | Nov 04, 2010 (133) |
| 26 | GMI | ss278727961 | May 04, 2012 (137) |
| 27 | NHLBI-ESP | ss342207500 | May 09, 2011 (135) |
| 28 | ILLUMINA | ss481233386 | May 04, 2012 (137) |
| 29 | ILLUMINA | ss481256998 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss482243198 | Sep 08, 2015 (146) |
| 31 | ILLUMINA | ss485412052 | May 04, 2012 (137) |
| 32 | EXOME_CHIP | ss491382444 | May 04, 2012 (137) |
| 33 | CLINSEQ_SNP | ss491885634 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss535266941 | Sep 08, 2015 (146) |
| 35 | NCBI-CURATED-RECORDS | ss537713037 | Jan 04, 2013 (137) |
| 36 | TISHKOFF | ss559115463 | Apr 25, 2013 (138) |
| 37 | SSMP | ss653037226 | Apr 25, 2013 (138) |
| 38 | ILLUMINA | ss783151472 | Aug 21, 2014 (142) |
| 39 | ILLUMINA | ss784107423 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss832410682 | Apr 01, 2015 (144) |
| 41 | ILLUMINA | ss836172976 | Sep 08, 2015 (146) |
| 42 | EVA-GONL | ss982769048 | Aug 21, 2014 (142) |
| 43 | JMKIDD_LAB | ss1067477452 | Aug 21, 2014 (142) |
| 44 | JMKIDD_LAB | ss1073507500 | Aug 21, 2014 (142) |
| 45 | 1000GENOMES | ss1319567822 | Aug 21, 2014 (142) |
| 46 | EVA_GENOME_DK | ss1581607837 | Apr 01, 2015 (144) |
| 47 | EVA_DECODE | ss1592312939 | Apr 01, 2015 (144) |
| 48 | EVA_UK10K_ALSPAC | ss1615282766 | Apr 01, 2015 (144) |
| 49 | EVA_UK10K_TWINSUK | ss1658276799 | Apr 01, 2015 (144) |
| 50 | EVA_EXAC | ss1688243901 | Apr 01, 2015 (144) |
| 51 | EVA_MGP | ss1711121880 | Apr 01, 2015 (144) |
| 52 | EVA_SVP | ss1712851456 | Apr 01, 2015 (144) |
| 53 | ILLUMINA | ss1752629646 | Sep 08, 2015 (146) |
| 54 | HAMMER_LAB | ss1804359108 | Sep 08, 2015 (146) |
| 55 | WEILL_CORNELL_DGM | ss1926021174 | Feb 12, 2016 (147) |
| 56 | ILLUMINA | ss1958889571 | Feb 12, 2016 (147) |
| 57 | ILLUMINA | ss1958889572 | Feb 12, 2016 (147) |
| 58 | GENOMED | ss1970357990 | Jul 19, 2016 (147) |
| 59 | JJLAB | ss2023643901 | Sep 14, 2016 (149) |
| 60 | ILLUMINA | ss2094825146 | Dec 20, 2016 (150) |
| 61 | USC_VALOUEV | ss2151810751 | Dec 20, 2016 (150) |
| 62 | HUMAN_LONGEVITY | ss2282964852 | Dec 20, 2016 (150) |
| 63 | SYSTEMSBIOZJU | ss2626309349 | Nov 08, 2017 (151) |
| 64 | ILLUMINA | ss2634430880 | Nov 08, 2017 (151) |
| 65 | ILLUMINA | ss2634430881 | Nov 08, 2017 (151) |
| 66 | ILLUMINA | ss2634430882 | Nov 08, 2017 (151) |
| 67 | GRF | ss2707404492 | Nov 08, 2017 (151) |
| 68 | GNOMAD | ss2735669354 | Nov 08, 2017 (151) |
| 69 | GNOMAD | ss2747587483 | Nov 08, 2017 (151) |
| 70 | AFFY | ss2985994846 | Nov 08, 2017 (151) |
| 71 | SWEGEN | ss2998800995 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss3022600674 | Nov 08, 2017 (151) |
| 73 | ILLUMINA | ss3022600675 | Nov 08, 2017 (151) |
| 74 | BIOINF_KMB_FNS_UNIBA | ss3025608920 | Nov 08, 2017 (151) |
| 75 | ILLUMINA | ss3629505624 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3632349292 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3634138335 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3636779021 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3638620560 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3643561996 | Oct 12, 2018 (152) |
| 81 | OMUKHERJEE_ADBS | ss3646335122 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3653113514 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3653113515 | Oct 12, 2018 (152) |
| 84 | EGCUT_WGS | ss3666715384 | Jul 13, 2019 (153) |
| 85 | EVA_DECODE | ss3716914328 | Jul 13, 2019 (153) |
| 86 | ILLUMINA | ss3726331057 | Jul 13, 2019 (153) |
| 87 | ACPOP | ss3733364280 | Jul 13, 2019 (153) |
| 88 | ILLUMINA | ss3744550415 | Jul 13, 2019 (153) |
| 89 | EVA | ss3764826169 | Jul 13, 2019 (153) |
| 90 | ILLUMINA | ss3772851653 | Jul 13, 2019 (153) |
| 91 | KHV_HUMAN_GENOMES | ss3807980894 | Jul 13, 2019 (153) |
| 92 | EVA | ss3824172542 | Apr 26, 2020 (154) |
| 93 | EVA | ss3825694841 | Apr 26, 2020 (154) |
| 94 | EVA | ss3829834290 | Apr 26, 2020 (154) |
| 95 | SGDP_PRJ | ss3864260301 | Apr 26, 2020 (154) |
| 96 | KRGDB | ss3911036908 | Apr 26, 2020 (154) |
| 97 | EVA | ss3986034708 | Apr 26, 2021 (155) |
| 98 | VINODS | ss4025209938 | Apr 26, 2021 (155) |
| 99 | VINODS | ss4025288072 | Apr 26, 2021 (155) |
| 100 | TOPMED | ss4698474130 | Apr 26, 2021 (155) |
| 101 | TOMMO_GENOMICS | ss5176849478 | Apr 26, 2021 (155) |
| 102 | EVA | ss5237022599 | Apr 26, 2021 (155) |
| 103 | EVA | ss5237190635 | Apr 26, 2021 (155) |
| 104 | EVA | ss5237394858 | Apr 26, 2021 (155) |
| 105 | EVA | ss5237394859 | Apr 26, 2021 (155) |
| 106 | EVA | ss5237645880 | Oct 17, 2022 (156) |
| 107 | 1000G_HIGH_COVERAGE | ss5267945794 | Oct 17, 2022 (156) |
| 108 | EVA | ss5364738725 | Oct 17, 2022 (156) |
| 109 | HUGCELL_USP | ss5465678631 | Oct 17, 2022 (156) |
| 110 | EVA | ss5508429978 | Oct 17, 2022 (156) |
| 111 | 1000G_HIGH_COVERAGE | ss5553605813 | Oct 17, 2022 (156) |
| 112 | EVA | ss5623935796 | Oct 17, 2022 (156) |
| 113 | SANFORD_IMAGENETICS | ss5640094571 | Oct 17, 2022 (156) |
| 114 | TOMMO_GENOMICS | ss5714709024 | Oct 17, 2022 (156) |
| 115 | EVA | ss5800129171 | Oct 17, 2022 (156) |
| 116 | YY_MCH | ss5807310372 | Oct 17, 2022 (156) |
| 117 | EVA | ss5842031214 | Oct 17, 2022 (156) |
| 118 | EVA | ss5848651995 | Oct 17, 2022 (156) |
| 119 | EVA | ss5855285186 | Oct 17, 2022 (156) |
| 120 | EVA | ss5883253570 | Oct 17, 2022 (156) |
| 121 | EVA | ss5968596611 | Oct 17, 2022 (156) |
| 122 | 1000Genomes | NC_000006.11 - 31914180 | Oct 12, 2018 (152) |
| 123 | 1000Genomes_30x | NC_000006.12 - 31946403 | Oct 17, 2022 (156) |
| 124 | The Avon Longitudinal Study of Parents and Children | NC_000006.11 - 31914180 | Oct 12, 2018 (152) |
| 125 | Genetic variation in the Estonian population | NC_000006.11 - 31914180 | Oct 12, 2018 (152) |
| 126 | ExAC | NC_000006.11 - 31914180 | Oct 12, 2018 (152) |
| 127 | The Danish reference pan genome | NC_000006.11 - 31914180 | Apr 26, 2020 (154) |
| 128 | gnomAD - Genomes | NC_000006.12 - 31946403 | Apr 26, 2021 (155) |
| 129 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 130 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 131 | Genome of the Netherlands Release 5 | NC_000006.11 - 31914180 | Apr 26, 2020 (154) |
| 132 | HapMap | NC_000006.12 - 31946403 | Apr 26, 2020 (154) |
| 133 | KOREAN population from KRGDB | NC_000006.11 - 31914180 | Apr 26, 2020 (154) |
| 134 | Medical Genome Project healthy controls from Spanish population | NC_000006.11 - 31914180 | Apr 26, 2020 (154) |
| 135 | Northern Sweden | NC_000006.11 - 31914180 | Jul 13, 2019 (153) |
| 136 | Qatari | NC_000006.11 - 31914180 | Apr 26, 2020 (154) |
| 137 | SGDP_PRJ | NC_000006.11 - 31914180 | Apr 26, 2020 (154) |
| 138 | Siberian | NC_000006.11 - 31914180 | Apr 26, 2020 (154) |
| 139 | 8.3KJPN | NC_000006.11 - 31914180 | Apr 26, 2021 (155) |
| 140 | 14KJPN | NC_000006.12 - 31946403 | Oct 17, 2022 (156) |
| 141 | TopMed | NC_000006.12 - 31946403 | Apr 26, 2021 (155) |
| 142 | UK 10K study - Twins | NC_000006.11 - 31914180 | Oct 12, 2018 (152) |
| 143 | ALFA | NC_000006.12 - 31946403 | Apr 26, 2021 (155) |
| 144 | ClinVar | RCV000017453.4 | Oct 17, 2022 (156) |
| 145 | ClinVar | RCV000017454.30 | Oct 17, 2022 (156) |
| 146 | ClinVar | RCV000017458.31 | Oct 17, 2022 (156) |
| 147 | ClinVar | RCV000259759.4 | Oct 17, 2022 (156) |
| 148 | ClinVar | RCV000281261.4 | Oct 17, 2022 (156) |
| 149 | ClinVar | RCV000319518.5 | Oct 17, 2022 (156) |
| 150 | ClinVar | RCV000455762.7 | Oct 17, 2022 (156) |
| 151 | ClinVar | RCV001154197.3 | Oct 17, 2022 (156) |
| 152 | ClinVar | RCV001515636.7 | Oct 17, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs1130150 | Mar 10, 2006 (126) |
| rs113153662 | May 09, 2011 (134) |
| rs115388724 | Oct 26, 2010 (133) |
| rs150343783 | Aug 12, 2011 (135) |
| rs281865546 | Jan 07, 2013 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss93436823, ss116395555, ss166431405, ss201628301, ss278727961, ss481233386, ss491885634, ss1592312939, ss1712851456, ss3643561996 | NC_000006.10:32022158:G:A | NC_000006.12:31946402:G:A | (self) |
| 31335646, 17472894, 12453632, 8270127, 7772776, 7767617, 18214302, 237640, 6649145, 8063104, 16277281, 4327105, 34818785, 17472894, ss222304984, ss233399979, ss342207500, ss481256998, ss482243198, ss485412052, ss491382444, ss535266941, ss559115463, ss653037226, ss783151472, ss784107423, ss832410682, ss836172976, ss982769048, ss1067477452, ss1073507500, ss1319567822, ss1581607837, ss1615282766, ss1658276799, ss1688243901, ss1711121880, ss1752629646, ss1804359108, ss1926021174, ss1958889571, ss1958889572, ss1970357990, ss2023643901, ss2094825146, ss2151810751, ss2626309349, ss2634430880, ss2634430881, ss2634430882, ss2707404492, ss2735669354, ss2747587483, ss2985994846, ss2998800995, ss3022600674, ss3022600675, ss3629505624, ss3632349292, ss3634138335, ss3636779021, ss3638620560, ss3646335122, ss3653113514, ss3653113515, ss3666715384, ss3733364280, ss3744550415, ss3764826169, ss3772851653, ss3824172542, ss3825694841, ss3829834290, ss3864260301, ss3911036908, ss3986034708, ss5176849478, ss5237394859, ss5364738725, ss5508429978, ss5623935796, ss5640094571, ss5800129171, ss5842031214, ss5848651995, ss5968596611 | NC_000006.11:31914179:G:A | NC_000006.12:31946402:G:A | (self) |
| RCV000017453.4, RCV000017454.30, RCV000017458.31, RCV000259759.4, RCV000281261.4, RCV000319518.5, RCV000455762.7, RCV001154197.3, RCV001515636.7, 41131748, 221292525, 3100826, 48546128, 535851688, 10735652597, ss263198085, ss537713037, ss2282964852, ss3025608920, ss3716914328, ss3726331057, ss3807980894, ss4698474130, ss5237022599, ss5237190635, ss5237645880, ss5267945794, ss5465678631, ss5553605813, ss5714709024, ss5807310372, ss5855285186, ss5883253570 | NC_000006.12:31946402:G:A | NC_000006.12:31946402:G:A | (self) |
| ss15724137, ss17124061, ss22369263 | NT_007592.13:22768642:A:A | NC_000006.12:31946402:G:A | (self) |
| ss813940, ss1521836, ss1955534, ss5606986, ss12674483, ss24796283, ss52084838, ss68971802, ss74878120, ss86272822, ss119361144, ss159712119, ss160771108, ss173995309 | NT_007592.15:31854179:G:A | NC_000006.12:31946402:G:A | (self) |
| ss4025209938 | NT_167245.2:3194182:G:A | NC_000006.12:31946402:G:A | (self) |
| ss4025288072 | NT_167249.2:3247591:G:A | NC_000006.12:31946402:G:A | (self) |
| ss2735669354, ss5237394858 | NC_000006.11:31914179:G:T | NC_000006.12:31946402:G:T | (self) |
| ss244317409 | NC_000006.12:31946402:G:T | NC_000006.12:31946402:G:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
92
citations for rs641153
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 2249879 | Molecular characterization of human complement factor B subtypes. | Davrinche C et al. | 1990 | Immunogenetics |
| 3315100 | The molecular genetics and polymorphism of C2 and factor B. | Campbell RD et al. | 1987 | British medical bulletin |
| 8181962 | Human factor B. Complete cDNA sequence of the BF*S allele. | Mejía JE et al. | 1994 | Human immunology |
| 16518403 | Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. | Gold B et al. | 2006 | Nature genetics |
| 16936732 | Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. | Maller J et al. | 2006 | Nature genetics |
| 17917691 | Genetic markers and biomarkers for age-related macular degeneration. | Ross RJ et al. | 2007 | Expert review of ophthalmology |
| 18806293 | Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD). | Richardson AJ et al. | 2009 | Investigative ophthalmology & visual science |
| 18806297 | Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. | McKay GJ et al. | 2009 | Investigative ophthalmology & visual science |
| 19117936 | Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. | Seddon JM et al. | 2009 | Investigative ophthalmology & visual science |
| 19169232 | Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study. | Farwick A et al. | 2009 | Eye (London, England) |
| 19187590 | Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population. | Chu J et al. | 2008 | Chinese medical journal |
| 19556007 | Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology. | Kondo N et al. | 2009 | Ophthalmology |
| 19661236 | Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. | Reynolds R et al. | 2009 | Investigative ophthalmology & visual science |
| 19696172 | The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. | Kaur I et al. | 2010 | Investigative ophthalmology & visual science |
| 19838195 | A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. | Gateva V et al. | 2009 | Nature genetics |
| 19844262 | Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach. | Sobrin L et al. | 2010 | European journal of human genetics |
| 19899988 | Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population. | Pei XT et al. | 2009 | Current eye research |
| 19933179 | Inverse association of female hormone replacement therapy with age-related macular degeneration and interactions with ARMS2 polymorphisms. | Edwards DR et al. | 2010 | Investigative ophthalmology & visual science |
| 20157618 | Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. | McKay GJ et al. | 2010 | Molecular vision |
| 20385826 | Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). | Neale BM et al. | 2010 | Proceedings of the National Academy of Sciences of the United States of America |
| 20861866 | Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. | Kopplin LJ et al. | 2010 | Genes and immunity |
| 20888482 | Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration. | Reynolds R et al. | 2010 | Ophthalmology |
| 21045241 | Age-related macular degeneration: genetic and environmental factors of disease. | Chen Y et al. | 2010 | Molecular interventions |
| 21139980 | Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration. | Seddon JM et al. | 2010 | Molecular vision |
| 21179236 | Analysis of candidate genes for macular telangiectasia type 2. | Parmalee NL et al. | 2010 | Molecular vision |
| 21394116 | Complement in age-related macular degeneration: a focus on function. | Bradley DT et al. | 2011 | Eye (London, England) |
| 21402993 | Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors. | Chen Y et al. | 2011 | Archives of ophthalmology (Chicago, Ill. |
| 21407270 | Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. | Janssens AC et al. | 2011 | European journal of human genetics |
| 21424820 | Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. | Janssens AC et al. | 2011 | European journal of epidemiology |
| 21447678 | Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. | Yu Y et al. | 2011 | Investigative ophthalmology & visual science |
| 21455292 | Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration. | Spencer KL et al. | 2011 | PloS one |
| 21541267 | Complement factor B polymorphism 32W protects against age-related macular degeneration. | Hughes AE et al. | 2011 | Molecular vision |
| 21555552 | Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk. | Heurich M et al. | 2011 | Proceedings of the National Academy of Sciences of the United States of America |
| 21620475 | Smoking, dietary betaine, methionine, and vitamin D in monozygotic twins with discordant macular degeneration: epigenetic implications. | Seddon JM et al. | 2011 | Ophthalmology |
| 21665990 | Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. | Yu Y et al. | 2011 | Human molecular genetics |
| 21797996 | Predictive genetic testing for the identification of high-risk groups: a simulation study on the impact of predictive ability. | Mihaescu R et al. | 2011 | Genome medicine |
| 21807600 | Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration. | Hageman GS et al. | 2011 | Human genomics |
| 21959373 | Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. | Seddon JM et al. | 2011 | Ophthalmology |
| 22046141 | Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. | Cunninghame Graham DS et al. | 2011 | PLoS genetics |
| 22247473 | Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. | Yu Y et al. | 2012 | Investigative ophthalmology & visual science |
| 22273503 | Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population. | Kim SJ et al. | 2012 | Experimental eye research |
| 22324898 | Genetics of immunological and inflammatory components in age-related macular degeneration. | Tuo J et al. | 2012 | Ocular immunology and inflammation |
| 22440158 | CFB/C2 gene polymorphisms and risk of age-related macular degeneration: a systematic review and meta-analysis. | Sun C et al. | 2012 | Current eye research |
| 22666427 | Modelling the genetic risk in age-related macular degeneration. | Grassmann F et al. | 2012 | PloS one |
| 22678500 | Genetic factors for choroidal neovascularization associated with high myopia. | Leveziel N et al. | 2012 | Investigative ophthalmology & visual science |
| 22694956 | Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. | Cipriani V et al. | 2012 | Human molecular genetics |
| 22705344 | Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. | Sobrin L et al. | 2012 | Ophthalmology |
| 23112567 | Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population. | Buentello-Volante B et al. | 2012 | Molecular vision |
| 23373431 | Complement factor B polymorphism and the phenotype of early age-related macular degeneration. | Mantel I et al. | 2014 | Ophthalmic genetics |
| 23481534 | Dietary omega-3 fatty acids, other fat intake, genetic susceptibility, and progression to incident geographic atrophy. | Reynolds R et al. | 2013 | Ophthalmology |
| 23523162 | Inclusion of genotype with fundus phenotype improves accuracy of predicting choroidal neovascularization and geographic atrophy. | Perlee LT et al. | 2013 | Ophthalmology |
| 23577725 | Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. | Naj AC et al. | 2013 | Annals of human genetics |
| 23820649 | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. | Cooper DN et al. | 2013 | Human genetics |
| 23919682 | Complement alternative pathway genetic variation and Dengue infection in the Thai population. | Kraivong R et al. | 2013 | Clinical and experimental immunology |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 24120328 | Prediction of age-related macular degeneration in the general population: the Three Continent AMD Consortium. | Buitendijk GHS et al. | 2013 | Ophthalmology |
| 24289920 | Systemic complement inhibition with eculizumab for geographic atrophy in age-related macular degeneration: the COMPLETE study. | Yehoshua Z et al. | 2014 | Ophthalmology |
| 24369445 | Mechanism of inflammation in age-related macular degeneration: an up-to-date on genetic landmarks. | Parmeggiani F et al. | 2013 | Mediators of inflammation |
| 24498017 | Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration. | Seddon JM et al. | 2014 | PloS one |
| 24652797 | Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign? | Marinozzi MC et al. | 2014 | Journal of the American Society of Nephrology |
| 24675670 | Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels. | Ristau T et al. | 2014 | PloS one |
| 24860613 | Genetic risk, ethnic variations and pharmacogenetic biomarkers in age-related macular degeneration and polypoidal choroidal vasculopathy. | Kuo JZ et al. | 2013 | Expert review of ophthalmology |
| 24865190 | Association of specific genetic polymorphisms with age-related macular degeneration in a northern Chinese population. | Zhuang W et al. | 2014 | Ophthalmic genetics |
| 25132797 | Using current data to define new approach in age related macular degeneration: need to accelerate translational research. | Anand A et al. | 2014 | Current genomics |
| 25276841 | Complement system in pathogenesis of AMD: dual player in degeneration and protection of retinal tissue. | Kawa MP et al. | 2014 | Journal of immunology research |
| 25478207 | Age-related macular degeneration: insights into inflammatory genes. | Cascella R et al. | 2014 | Journal of ophthalmology |
| 25558172 | Pharmacogenetic associations with long-term response to anti-vascular endothelial growth factor treatment in neovascular AMD patients. | Park UC et al. | 2014 | Molecular vision |
| 26255974 | A Validated Phenotyping Algorithm for Genetic Association Studies in Age-related Macular Degeneration. | Simonett JM et al. | 2015 | Scientific reports |
| 26490493 | Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study. | Merle BM et al. | 2015 | The American journal of clinical nutrition |
| 26961928 | Dietary folate, B vitamins, genetic susceptibility and progression to advanced nonexudative age-related macular degeneration with geographic atrophy: a prospective cohort study. | Merle BM et al. | 2016 | The American journal of clinical nutrition |
| 27239555 | Oxidative stress, innate immunity, and age-related macular degeneration. | Shaw PX et al. | 2016 | AIMS molecular science |
| 27241480 | A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo. | Paun CC et al. | 2016 | Scientific reports |
| 27252648 | AMD Genetics in India: The Missing Links. | Anand A et al. | 2016 | Frontiers in aging neuroscience |
| 27257685 | Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages. | Schick T et al. | 2016 | PloS one |
| 27258093 | Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration. | Saksens NT et al. | 2016 | PloS one |
| 27759029 | A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility. | Gupta A et al. | 2016 | European journal of human genetics |
| 27832277 | Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus. | Sardell RJ et al. | 2016 | Investigative ophthalmology & visual science |
| 29288272 | Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions - The Weisenfeld Award Lecture. | Seddon JM et al. | 2017 | Investigative ophthalmology & visual science |
| 29453225 | Prevalence of age-related macular degeneration associated genetic risk factors and 4-year progression data in the Irish population. | Connolly E et al. | 2018 | The British journal of ophthalmology |
| 29700787 | Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration. | Lorés-Motta L et al. | 2018 | Molecular diagnosis & therapy |
| 30179527 | Association Between Complement Factor C2/C3/CFB/CFH Polymorphisms and Age-Related Macular Degeneration: A Meta-Analysis. | Lu F et al. | 2018 | Genetic testing and molecular biomarkers |
| 30225264 | Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine. | Maugeri A et al. | 2018 | BioMed research international |
| 30389371 | Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals. | Seddon JM et al. | 2019 | American journal of ophthalmology |
| 30450319 | New insight into the role of the complement in the most common types of retinopathy-current literature review. | Chrzanowska M et al. | 2018 | International journal of ophthalmology |
| 30974970 | Complement factor B gene polymorphisms and risk of age-related macular degeneration: A meta-analysis. | Su Y et al. | 2020 | European journal of ophthalmology |
| 31118930 | Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS. | Valoti E et al. | 2019 | Frontiers in immunology |
| 32407518 | Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size. | Merle BMJ et al. | 2020 | Investigative ophthalmology & visual science |
| 33334325 | A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population. | Seo JY et al. | 2020 | BMC medical genetics |
| 33371261 | Associations between the Complement System and Choroidal Neovascularization in Wet Age-Related Macular Degeneration. | Jensen EG et al. | 2020 | International journal of molecular sciences |
| 33765843 | Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population. | Gili P et al. | 2022 | European journal of ophthalmology |
| 34750590 | The effect of systemic levels of TNF-alpha and complement pathway activity on outcomes of VEGF inhibition in neovascular AMD. | Khan AH et al. | 2022 | Eye (London, England) |
| 34945728 | Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration. | Acar IE et al. | 2021 | Journal of personalized medicine |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.