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.
rs5985
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:6318562 (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
- C>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.230532 (80651/349848, ALFA)A=0.216691 (57356/264690, TOPMED)A=0.220019 (30778/139888, GnomAD) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
F13A1 : Missense VariantLOC124901253 : Intron Variant
- Publications
- 53 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 | 366122 | C=0.769399 | A=0.230601, T=0.000000 | 0.595894 | 0.057096 | 0.34701 | 32 |
| European | Sub | 306476 | C=0.756108 | A=0.243892, T=0.000000 | 0.573742 | 0.061525 | 0.364733 | 11 |
| African | Sub | 15566 | C=0.84177 | A=0.15823, T=0.00000 | 0.707953 | 0.024412 | 0.267635 | 0 |
| African Others | Sub | 570 | C=0.847 | A=0.153, T=0.000 | 0.705263 | 0.010526 | 0.284211 | 2 |
| African American | Sub | 14996 | C=0.84156 | A=0.15844, T=0.00000 | 0.708055 | 0.02494 | 0.267005 | 0 |
| Asian | Sub | 6936 | C=0.9986 | A=0.0014, T=0.0000 | 0.997116 | 0.0 | 0.002884 | 0 |
| East Asian | Sub | 4968 | C=0.9986 | A=0.0014, T=0.0000 | 0.997182 | 0.0 | 0.002818 | 0 |
| Other Asian | Sub | 1968 | C=0.9985 | A=0.0015, T=0.0000 | 0.996951 | 0.0 | 0.003049 | 0 |
| Latin American 1 | Sub | 1450 | C=0.7917 | A=0.2083, T=0.0000 | 0.633103 | 0.049655 | 0.317241 | 1 |
| Latin American 2 | Sub | 6946 | C=0.7587 | A=0.2413, T=0.0000 | 0.579902 | 0.062482 | 0.357616 | 1 |
| South Asian | Sub | 5210 | C=0.8800 | A=0.1200, T=0.0000 | 0.777735 | 0.017658 | 0.204607 | 2 |
| Other | Sub | 23538 | C=0.80436 | A=0.19564, T=0.00000 | 0.654176 | 0.045458 | 0.300365 | 14 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 349848 | C=0.769468 | A=0.230532, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 296470 | C=0.756576 | A=0.243424, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 22100 | C=0.80778 | A=0.19222, T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 10736 | C=0.84892 | A=0.15108, T=0.00000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6946 | C=0.7587 | A=0.2413, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 6936 | C=0.9986 | A=0.0014, T=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 5210 | C=0.8800 | A=0.1200, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1450 | C=0.7917 | A=0.2083, T=0.0000 |
| TopMed | Global | Study-wide | 264690 | C=0.783309 | A=0.216691 |
| gnomAD - Genomes | Global | Study-wide | 139888 | C=0.779981 | A=0.220019 |
| gnomAD - Genomes | European | Sub | 75748 | C=0.75050 | A=0.24950 |
| gnomAD - Genomes | African | Sub | 41910 | C=0.81453 | A=0.18547 |
| gnomAD - Genomes | American | Sub | 13632 | C=0.77296 | A=0.22704 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3316 | C=0.8311 | A=0.1689 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=0.9990 | A=0.0010 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.7918 | A=0.2082 |
| The PAGE Study | Global | Study-wide | 78698 | C=0.82170 | A=0.17830 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | C=0.81057 | A=0.18943 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.75069 | A=0.24931 |
| The PAGE Study | Asian | Sub | 8316 | C=0.9978 | A=0.0022 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.7968 | A=0.2032 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9385 | A=0.0615 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.7790 | A=0.2210 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.8004 | A=0.1996 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.7098 | A=0.2902 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.7518 | A=0.2482 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.7738 | A=0.2262 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.901 | A=0.099 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.99968 | T=0.00032 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.99964 | T=0.00036 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.8478 | A=0.1522 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.8354 | A=0.1646 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.7599 | A=0.2401 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9077 | A=0.0923 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9983 | A=0.0017 |
| 1000Genomes_30x | American | Sub | 980 | C=0.731 | A=0.269 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.8522 | A=0.1478 |
| 1000Genomes | African | Sub | 1322 | C=0.8359 | A=0.1641 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9980 | A=0.0020 |
| 1000Genomes | Europe | Sub | 1006 | C=0.7584 | A=0.2416 |
| 1000Genomes | South Asian | Sub | 978 | C=0.907 | A=0.093 |
| 1000Genomes | American | Sub | 694 | C=0.731 | A=0.269 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4472 | C=0.7091 | A=0.2909 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.7590 | A=0.2410 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.7438 | A=0.2562 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=1.0000 | A=0.0000 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2080 | C=0.8582 | A=0.1418 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.985 | A=0.015 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.841 | A=0.159 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 348 | C=0.899 | A=0.101 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 318 | C=0.736 | A=0.264 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.736 | A=0.264 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.819 | A=0.181 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=1.00 | A=0.00 |
| HapMap | Global | Study-wide | 1556 | C=0.8496 | A=0.1504 |
| HapMap | African | Sub | 692 | C=0.867 | A=0.133 |
| HapMap | American | Sub | 598 | C=0.836 | A=0.164 |
| HapMap | Europe | Sub | 176 | C=0.750 | A=0.250 |
| HapMap | Asian | Sub | 90 | C=1.00 | A=0.00 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.753 | A=0.247 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.996 | A=0.004 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.996 | A=0.004 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.745 | A=0.255 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.848 | A=0.152 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.776 | A=0.224 |
| Qatari | Global | Study-wide | 216 | C=0.847 | A=0.153 |
| SGDP_PRJ | Global | Study-wide | 110 | C=0.445 | A=0.555 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 64 | C=0.66 | A=0.34 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.70 | A=0.30 |
| Siberian | Global | Study-wide | 16 | C=0.31 | A=0.69 |
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.6318562C>A |
| GRCh38.p14 chr 6 | NC_000006.12:g.6318562C>T |
| GRCh37.p13 chr 6 | NC_000006.11:g.6318795C>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.6318795C>T |
| F13A1 RefSeqGene (LRG_549) | NG_008107.1:g.7130G>T |
| F13A1 RefSeqGene (LRG_549) | NG_008107.1:g.7130G>A |
Gene: F13A1, coagulation factor XIII A chain
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| F13A1 transcript | NM_000129.4:c.103G>T | V [GTG] > L [TTG] | Coding Sequence Variant |
| coagulation factor XIII A chain | NP_000120.2:p.Val35Leu | V (Val) > L (Leu) | Missense Variant |
| F13A1 transcript | NM_000129.4:c.103G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| coagulation factor XIII A chain | NP_000120.2:p.Val35Met | V (Val) > M (Met) | Missense Variant |
Gene: LOC124901253, uncharacterized LOC124901253
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC124901253 transcript | XR_007059428.1:n. | N/A | Intron 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:
31571
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000017996.3 | Myocardial infarction, protection against | Protective |
| RCV000017997.3 | Venous thrombosis, protection against | Protective |
| RCV000248039.1 | not specified | Benign |
| RCV000374698.3 | Factor XIII, A subunit, deficiency of | Benign |
| RCV000998517.10 | not provided | Conflicting-Interpretations-Of-Pathogenicity |
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 | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.6318562= | NC_000006.12:g.6318562C>A | NC_000006.12:g.6318562C>T |
| GRCh37.p13 chr 6 | NC_000006.11:g.6318795= | NC_000006.11:g.6318795C>A | NC_000006.11:g.6318795C>T |
| F13A1 RefSeqGene (LRG_549) | NG_008107.1:g.7130= | NG_008107.1:g.7130G>T | NG_008107.1:g.7130G>A |
| F13A1 transcript | NM_000129.4:c.103= | NM_000129.4:c.103G>T | NM_000129.4:c.103G>A |
| F13A1 transcript | NM_000129.3:c.103= | NM_000129.3:c.103G>T | NM_000129.3:c.103G>A |
| coagulation factor XIII A chain | NP_000120.2:p.Val35= | NP_000120.2:p.Val35Leu | NP_000120.2:p.Val35Met |
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#.
162 SubSNP,
28 Frequency,
5 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF-CSNP | ss7595 | Sep 19, 2000 (52) |
| 2 | PGA-UW-FHCRC | ss4250177 | Jan 04, 2002 (102) |
| 3 | BCM_SSAHASNP | ss10296105 | Jul 11, 2003 (116) |
| 4 | CSHL-HAPMAP | ss19693415 | Feb 27, 2004 (120) |
| 5 | ABI | ss42773612 | Mar 15, 2006 (126) |
| 6 | PGA-UW-FHCRC | ss52086596 | Oct 16, 2006 (127) |
| 7 | ILLUMINA | ss65728741 | Oct 16, 2006 (127) |
| 8 | ILLUMINA | ss66719414 | Dec 01, 2006 (127) |
| 9 | ILLUMINA | ss67431772 | Dec 01, 2006 (127) |
| 10 | ILLUMINA | ss67788087 | Dec 01, 2006 (127) |
| 11 | ILLUMINA | ss70852820 | May 26, 2008 (130) |
| 12 | ILLUMINA | ss71438500 | May 18, 2007 (127) |
| 13 | ILLUMINA | ss75830178 | Dec 07, 2007 (129) |
| 14 | SI_EXO | ss76896196 | Dec 07, 2007 (129) |
| 15 | ILLUMINA | ss79213420 | Dec 15, 2007 (130) |
| 16 | KRIBB_YJKIM | ss83347007 | Dec 15, 2007 (130) |
| 17 | 1000GENOMES | ss109722565 | Jan 24, 2009 (130) |
| 18 | 1000GENOMES | ss113847069 | Jan 25, 2009 (130) |
| 19 | ILLUMINA | ss122496149 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss154347385 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss159523695 | Dec 01, 2009 (131) |
| 22 | SEATTLESEQ | ss159711180 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss160754923 | Dec 01, 2009 (131) |
| 24 | COMPLETE_GENOMICS | ss161991249 | Jul 04, 2010 (132) |
| 25 | COMPLETE_GENOMICS | ss163100051 | Jul 04, 2010 (132) |
| 26 | COMPLETE_GENOMICS | ss166083355 | Jul 04, 2010 (132) |
| 27 | ILLUMINA | ss172075427 | Jul 04, 2010 (132) |
| 28 | ILLUMINA | ss173956338 | Jul 04, 2010 (132) |
| 29 | BUSHMAN | ss201372842 | Jul 04, 2010 (132) |
| 30 | 1000GENOMES | ss222187971 | Jul 14, 2010 (132) |
| 31 | 1000GENOMES | ss233308161 | Jul 14, 2010 (132) |
| 32 | ILLUMINA | ss244303976 | Jul 04, 2010 (132) |
| 33 | OMIM-CURATED-RECORDS | ss275514529 | Nov 22, 2010 (133) |
| 34 | PJP | ss293669734 | May 09, 2011 (134) |
| 35 | NHLBI-ESP | ss342200616 | May 09, 2011 (134) |
| 36 | ILLUMINA | ss481184502 | May 04, 2012 (137) |
| 37 | ILLUMINA | ss481207448 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss482194491 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss485387463 | May 04, 2012 (137) |
| 40 | 1000GENOMES | ss490918976 | May 04, 2012 (137) |
| 41 | EXOME_CHIP | ss491377327 | May 04, 2012 (137) |
| 42 | CLINSEQ_SNP | ss491880278 | May 04, 2012 (137) |
| 43 | ILLUMINA | ss537327398 | Sep 08, 2015 (146) |
| 44 | TISHKOFF | ss558979374 | Apr 25, 2013 (138) |
| 45 | SSMP | ss652889059 | Apr 25, 2013 (138) |
| 46 | ILLUMINA | ss778561903 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss780845239 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss783139276 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss783528764 | Sep 08, 2015 (146) |
| 50 | ILLUMINA | ss784095579 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss825543938 | Apr 01, 2015 (144) |
| 52 | ILLUMINA | ss832398346 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss833034964 | Jul 13, 2019 (153) |
| 54 | ILLUMINA | ss834018820 | Sep 08, 2015 (146) |
| 55 | EVA-GONL | ss982544623 | Aug 21, 2014 (142) |
| 56 | JMKIDD_LAB | ss1067475070 | Aug 21, 2014 (142) |
| 57 | JMKIDD_LAB | ss1073351792 | Aug 21, 2014 (142) |
| 58 | 1000GENOMES | ss1318822643 | Aug 21, 2014 (142) |
| 59 | EVA_GENOME_DK | ss1581516165 | Apr 01, 2015 (144) |
| 60 | EVA_FINRISK | ss1584043563 | Apr 01, 2015 (144) |
| 61 | EVA_DECODE | ss1592091482 | Apr 01, 2015 (144) |
| 62 | EVA_UK10K_ALSPAC | ss1614869283 | Apr 01, 2015 (144) |
| 63 | EVA_UK10K_TWINSUK | ss1657863316 | Apr 01, 2015 (144) |
| 64 | EVA_EXAC | ss1688147320 | Apr 01, 2015 (144) |
| 65 | EVA_EXAC | ss1688147321 | Apr 01, 2015 (144) |
| 66 | EVA_MGP | ss1711111163 | Apr 01, 2015 (144) |
| 67 | EVA_SVP | ss1712832593 | Apr 01, 2015 (144) |
| 68 | ILLUMINA | ss1752643861 | Sep 08, 2015 (146) |
| 69 | ILLUMINA | ss1752643862 | Sep 08, 2015 (146) |
| 70 | HAMMER_LAB | ss1804263328 | Sep 08, 2015 (146) |
| 71 | ILLUMINA | ss1917798947 | Feb 12, 2016 (147) |
| 72 | WEILL_CORNELL_DGM | ss1925803273 | Feb 12, 2016 (147) |
| 73 | ILLUMINA | ss1946166471 | Feb 12, 2016 (147) |
| 74 | ILLUMINA | ss1958859444 | Feb 12, 2016 (147) |
| 75 | JJLAB | ss2023516736 | Sep 14, 2016 (149) |
| 76 | ILLUMINA | ss2094820200 | Dec 20, 2016 (150) |
| 77 | ILLUMINA | ss2095169642 | Dec 20, 2016 (150) |
| 78 | USC_VALOUEV | ss2151678963 | Dec 20, 2016 (150) |
| 79 | HUMAN_LONGEVITY | ss2281473498 | Dec 20, 2016 (150) |
| 80 | ILLUMINA | ss2634394685 | Nov 08, 2017 (151) |
| 81 | GRF | ss2707264604 | Nov 08, 2017 (151) |
| 82 | GNOMAD | ss2735521938 | Nov 08, 2017 (151) |
| 83 | GNOMAD | ss2747541699 | Nov 08, 2017 (151) |
| 84 | GNOMAD | ss2835374831 | Nov 08, 2017 (151) |
| 85 | AFFY | ss2985352375 | Nov 08, 2017 (151) |
| 86 | AFFY | ss2985980424 | Nov 08, 2017 (151) |
| 87 | SWEGEN | ss2998454877 | Nov 08, 2017 (151) |
| 88 | ILLUMINA | ss3022571004 | Nov 08, 2017 (151) |
| 89 | BIOINF_KMB_FNS_UNIBA | ss3025542539 | Nov 08, 2017 (151) |
| 90 | CSHL | ss3346818543 | Nov 08, 2017 (151) |
| 91 | ILLUMINA | ss3629435083 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3629435084 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3632315205 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3633404693 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3634126638 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3635042497 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3635042498 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3635808002 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3636757136 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3637560715 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3638604827 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3639305083 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3639677435 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3640749792 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3640749793 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3643546795 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3644899532 | Oct 12, 2018 (152) |
| 108 | OMUKHERJEE_ADBS | ss3646330363 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3653078886 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3653078887 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3654120654 | Oct 12, 2018 (152) |
| 112 | EGCUT_WGS | ss3666378357 | Jul 13, 2019 (153) |
| 113 | EVA_DECODE | ss3716507940 | Jul 13, 2019 (153) |
| 114 | ILLUMINA | ss3726307029 | Jul 13, 2019 (153) |
| 115 | ACPOP | ss3733169349 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3744545369 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3745342607 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3745342608 | Jul 13, 2019 (153) |
| 119 | EVA | ss3764566173 | Jul 13, 2019 (153) |
| 120 | PAGE_CC | ss3771259770 | Jul 13, 2019 (153) |
| 121 | ILLUMINA | ss3772836429 | Jul 13, 2019 (153) |
| 122 | ILLUMINA | ss3772836430 | Jul 13, 2019 (153) |
| 123 | PACBIO | ss3785361449 | Jul 13, 2019 (153) |
| 124 | PACBIO | ss3790728662 | Jul 13, 2019 (153) |
| 125 | PACBIO | ss3795605846 | Jul 13, 2019 (153) |
| 126 | KHV_HUMAN_GENOMES | ss3807727509 | Jul 13, 2019 (153) |
| 127 | EVA | ss3824153079 | Apr 26, 2020 (154) |
| 128 | EVA | ss3829711736 | Apr 26, 2020 (154) |
| 129 | EVA | ss3838330679 | Apr 26, 2020 (154) |
| 130 | EVA | ss3843770673 | Apr 26, 2020 (154) |
| 131 | HGDP | ss3847821450 | Apr 26, 2020 (154) |
| 132 | SGDP_PRJ | ss3863840824 | Apr 26, 2020 (154) |
| 133 | KRGDB | ss3910577023 | Apr 26, 2020 (154) |
| 134 | FSA-LAB | ss3984328201 | Apr 26, 2021 (155) |
| 135 | FSA-LAB | ss3984328202 | Apr 26, 2021 (155) |
| 136 | EVA | ss3984560843 | Apr 26, 2021 (155) |
| 137 | EVA | ss3985197030 | Apr 26, 2021 (155) |
| 138 | EVA | ss3986334985 | Apr 26, 2021 (155) |
| 139 | TOPMED | ss4692417694 | Apr 26, 2021 (155) |
| 140 | TOMMO_GENOMICS | ss5175990853 | Apr 26, 2021 (155) |
| 141 | EVA | ss5237019536 | Apr 26, 2021 (155) |
| 142 | EVA | ss5237645085 | Oct 13, 2022 (156) |
| 143 | 1000G_HIGH_COVERAGE | ss5267268545 | Oct 13, 2022 (156) |
| 144 | TRAN_CS_UWATERLOO | ss5314414972 | Oct 13, 2022 (156) |
| 145 | EVA | ss5315118878 | Oct 13, 2022 (156) |
| 146 | EVA | ss5363569818 | Oct 13, 2022 (156) |
| 147 | HUGCELL_USP | ss5465072594 | Oct 13, 2022 (156) |
| 148 | 1000G_HIGH_COVERAGE | ss5552631789 | Oct 13, 2022 (156) |
| 149 | EVA | ss5624154227 | Oct 13, 2022 (156) |
| 150 | SANFORD_IMAGENETICS | ss5624613627 | Oct 13, 2022 (156) |
| 151 | SANFORD_IMAGENETICS | ss5639692624 | Oct 13, 2022 (156) |
| 152 | TOMMO_GENOMICS | ss5713609596 | Oct 13, 2022 (156) |
| 153 | EVA | ss5799674862 | Oct 13, 2022 (156) |
| 154 | EVA | ss5800054999 | Oct 13, 2022 (156) |
| 155 | EVA | ss5841740960 | Oct 13, 2022 (156) |
| 156 | EVA | ss5846863331 | Oct 13, 2022 (156) |
| 157 | EVA | ss5847283155 | Oct 13, 2022 (156) |
| 158 | EVA | ss5848079476 | Oct 13, 2022 (156) |
| 159 | EVA | ss5848644829 | Oct 13, 2022 (156) |
| 160 | EVA | ss5882502490 | Oct 13, 2022 (156) |
| 161 | EVA | ss5968187449 | Oct 13, 2022 (156) |
| 162 | EVA | ss5979768792 | Oct 13, 2022 (156) |
| 163 | 1000Genomes | NC_000006.11 - 6318795 | Oct 12, 2018 (152) |
| 164 | 1000Genomes_30x | NC_000006.12 - 6318562 | Oct 13, 2022 (156) |
| 165 | The Avon Longitudinal Study of Parents and Children | NC_000006.11 - 6318795 | Oct 12, 2018 (152) |
| 166 | Genetic variation in the Estonian population | NC_000006.11 - 6318795 | Oct 12, 2018 (152) |
| 167 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 168 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 169 | FINRISK | NC_000006.11 - 6318795 | Apr 26, 2020 (154) |
| 170 | The Danish reference pan genome | NC_000006.11 - 6318795 | Apr 26, 2020 (154) |
| 171 | gnomAD - Genomes | NC_000006.12 - 6318562 | Apr 26, 2021 (155) |
| 172 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 173 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 174 | Genome of the Netherlands Release 5 | NC_000006.11 - 6318795 | Apr 26, 2020 (154) |
| 175 | HGDP-CEPH-db Supplement 1 | NC_000006.10 - 6263794 | Apr 26, 2020 (154) |
| 176 | HapMap | NC_000006.12 - 6318562 | Apr 26, 2020 (154) |
| 177 | KOREAN population from KRGDB | NC_000006.11 - 6318795 | Apr 26, 2020 (154) |
| 178 | Medical Genome Project healthy controls from Spanish population | NC_000006.11 - 6318795 | Apr 26, 2020 (154) |
| 179 | Northern Sweden | NC_000006.11 - 6318795 | Jul 13, 2019 (153) |
| 180 | The PAGE Study | NC_000006.12 - 6318562 | Jul 13, 2019 (153) |
| 181 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000006.11 - 6318795 | Apr 26, 2021 (155) |
| 182 | CNV burdens in cranial meningiomas | NC_000006.11 - 6318795 | Apr 26, 2021 (155) |
| 183 | Qatari | NC_000006.11 - 6318795 | Apr 26, 2020 (154) |
| 184 | SGDP_PRJ | NC_000006.11 - 6318795 | Apr 26, 2020 (154) |
| 185 | Siberian | NC_000006.11 - 6318795 | Apr 26, 2020 (154) |
| 186 | 8.3KJPN | NC_000006.11 - 6318795 | Apr 26, 2021 (155) |
| 187 | 14KJPN | NC_000006.12 - 6318562 | Oct 13, 2022 (156) |
| 188 | TopMed | NC_000006.12 - 6318562 | Apr 26, 2021 (155) |
| 189 | UK 10K study - Twins | NC_000006.11 - 6318795 | Oct 12, 2018 (152) |
| 190 | ALFA | NC_000006.12 - 6318562 | Apr 26, 2021 (155) |
| 191 | ClinVar | RCV000017996.3 | Oct 12, 2018 (152) |
| 192 | ClinVar | RCV000017997.3 | Oct 12, 2018 (152) |
| 193 | ClinVar | RCV000248039.1 | Oct 12, 2018 (152) |
| 194 | ClinVar | RCV000374698.3 | Oct 13, 2022 (156) |
| 195 | ClinVar | RCV000998517.10 | Oct 13, 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) |
|---|---|
| rs60452761 | May 26, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss3639305083, ss3639677435 | NC_000006.9:6263793:C:A | NC_000006.12:6318561:C:A | (self) |
| 499342, ss109722565, ss113847069, ss161991249, ss163100051, ss166083355, ss201372842, ss293669734, ss481184502, ss491880278, ss825543938, ss1592091482, ss1712832593, ss3643546795, ss3847821450 | NC_000006.10:6263793:C:A | NC_000006.12:6318561:C:A | (self) |
| 30559391, 17012518, 12116605, 40024, 7681104, 7550669, 17754417, 226923, 6454214, 422957, 110218, 7845203, 15857804, 4195317, 17012518, ss222187971, ss233308161, ss342200616, ss481207448, ss482194491, ss485387463, ss490918976, ss491377327, ss537327398, ss558979374, ss652889059, ss778561903, ss780845239, ss783139276, ss783528764, ss784095579, ss832398346, ss833034964, ss834018820, ss982544623, ss1067475070, ss1073351792, ss1318822643, ss1581516165, ss1584043563, ss1614869283, ss1657863316, ss1688147320, ss1711111163, ss1752643861, ss1752643862, ss1804263328, ss1917798947, ss1925803273, ss1946166471, ss1958859444, ss2023516736, ss2094820200, ss2095169642, ss2151678963, ss2634394685, ss2707264604, ss2735521938, ss2747541699, ss2835374831, ss2985352375, ss2985980424, ss2998454877, ss3022571004, ss3346818543, ss3629435083, ss3629435084, ss3632315205, ss3633404693, ss3634126638, ss3635042497, ss3635042498, ss3635808002, ss3636757136, ss3637560715, ss3638604827, ss3640749792, ss3640749793, ss3644899532, ss3646330363, ss3653078886, ss3653078887, ss3654120654, ss3666378357, ss3733169349, ss3744545369, ss3745342607, ss3745342608, ss3764566173, ss3772836429, ss3772836430, ss3785361449, ss3790728662, ss3795605846, ss3824153079, ss3829711736, ss3838330679, ss3863840824, ss3910577023, ss3984328201, ss3984328202, ss3984560843, ss3985197030, ss3986334985, ss5315118878, ss5363569818, ss5624154227, ss5624613627, ss5639692624, ss5799674862, ss5800054999, ss5841740960, ss5846863331, ss5847283155, ss5848079476, ss5848644829, ss5968187449, ss5979768792 | NC_000006.11:6318794:C:A | NC_000006.12:6318561:C:A | (self) |
| RCV000017996.3, RCV000017997.3, RCV000248039.1, RCV000374698.3, RCV000998517.10, 40157724, 216037414, 3052437, 481239, 529795252, 10624573448, ss275514529, ss2281473498, ss3025542539, ss3716507940, ss3726307029, ss3771259770, ss3807727509, ss3843770673, ss4692417694, ss5237019536, ss5237645085, ss5267268545, ss5314414972, ss5465072594, ss5552631789, ss5882502490 | NC_000006.12:6318561:C:A | NC_000006.12:6318561:C:A | (self) |
| ss7595, ss4250177, ss42773612, ss52086596, ss65728741, ss66719414, ss67431772, ss67788087, ss70852820, ss71438500, ss75830178, ss79213420, ss83347007, ss122496149, ss154347385, ss159523695, ss159711180, ss160754923, ss172075427, ss173956338, ss244303976 | NT_007592.15:6258794:C:A | NC_000006.12:6318561:C:A | (self) |
| ss10296105 | NT_034880.2:6258793:C:A | NC_000006.12:6318561:C:A | (self) |
| ss19693415, ss76896196 | NT_034880.3:6258793:C:A | NC_000006.12:6318561:C:A | (self) |
| 33960160, ss1688147321, ss2735521938, ss5175990853 | NC_000006.11:6318794:C:T | NC_000006.12:6318561:C:T | (self) |
| 47446700, 10624573448, ss5713609596 | NC_000006.12:6318561:C:T | NC_000006.12:6318561:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
53
citations for rs5985
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 8025280 | Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. | Mikkola H et al. | 1994 | Blood |
| 9459313 | Association of a common polymorphism in the factor XIII gene with myocardial infarction. | Kohler HP et al. | 1998 | Thrombosis and haemostasis |
| 9550516 | Factor XIII Val 34 Leu: a novel association with primary intracerebral hemorrhage. | Catto AJ et al. | 1998 | Stroke |
| 10365735 | Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. | Franco RF et al. | 1999 | Thrombosis and haemostasis |
| 10910914 | The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. | Ariëns RA et al. | 2000 | Blood |
| 12072871 | The effect of the Val34Leu polymorphism in the factor XIII gene in infants with a birth weight below 1500 g. | Göpel W et al. | 2002 | The Journal of pediatrics |
| 12456499 | Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction. | Reiner AP et al. | 2003 | Blood |
| 16525568 | Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction. | Mannila MN et al. | 2006 | Thrombosis and haemostasis |
| 16681647 | Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway. | Nolan VG et al. | 2006 | British journal of haematology |
| 16740590 | Factor XIII Val34Leu variant is protective against venous thromboembolism: a HuGE review and meta-analysis. | Wells PS et al. | 2006 | American journal of epidemiology |
| 17107626 | Comparison of PrASE and Pyrosequencing for SNP Genotyping. | Käller M et al. | 2006 | BMC genomics |
| 17241179 | The association between fibrinogen haplotypes and myocardial infarction in men is partly mediated through pleiotropic effects on the serum IL-6 concentration. | Mannila MN et al. | 2007 | Journal of internal medicine |
| 17393027 | Factor XIII Val34Leu variant and the risk of myocardial infarction: a meta-analysis. | Shafey M et al. | 2007 | Thrombosis and haemostasis |
| 17975119 | Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. | Shiffman D et al. | 2008 | Arteriosclerosis, thrombosis, and vascular biology |
| 20031584 | Genetics of atherothrombotic and lacunar stroke. | Debette S et al. | 2009 | Circulation. Cardiovascular genetics |
| 20227257 | Polymorphisms in the platelet-specific collagen receptor GP6 are associated with risk of nonfatal myocardial infarction in Caucasians. | Shaffer JR et al. | 2011 | Nutrition, metabolism, and cardiovascular diseases |
| 20417488 | Association of fetal inflammation and coagulation pathway gene polymorphisms with neurodevelopmental delay at age 2 years. | Clark EA et al. | 2010 | American journal of obstetrics and gynecology |
| 20532202 | Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. | Naukkarinen J et al. | 2010 | PLoS genetics |
| 20887247 | Pharmacogenetic aspects in therapeutic management of subfoveal choroidal neovascularisation: role of factor XIII-A 185 T-allele. | Parmeggiani F et al. | 2011 | Current drug targets |
| 21149552 | Heterogeneity of the phenotypic definition of coronary artery disease and its impact on genetic association studies. | Kitsios GD et al. | 2011 | Circulation. Cardiovascular genetics |
| 21332313 | Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion. | Satra M et al. | 2011 | Pharmacogenomics |
| 21422408 | Clotting factor gene polymorphisms and colorectal cancer risk. | Vossen CY et al. | 2011 | Journal of clinical oncology |
| 21659962 | Replication of genetic associations in the inflammation, complement, and coagulation pathways with intraventricular hemorrhage in LBW preterm neonates. | Ryckman KK et al. | 2011 | Pediatric research |
| 21992066 | Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers. | Thomas PE et al. | 2011 | BMC bioinformatics |
| 22267327 | Fibrinogen and factor XIII A-subunit genotypes interactively influence C-reactive protein levels during inflammation. | Hoppe B et al. | 2012 | Annals of the rheumatic diseases |
| 22794791 | Exploring the interaction between SNP genotype and postmenopausal hormone therapy effects on stroke risk. | Huang Y et al. | 2012 | Genome medicine |
| 22905135 | Association between variant Y402H in age-related macular degeneration (AMD) susceptibility gene CFH and treatment response of AMD: a meta-analysis. | Chen H et al. | 2012 | PloS one |
| 22909824 | Activity and levels of factor XIII in a Venezuelan admixed population: association with rs5985 (Val35Leu) and STR F13A01 polymorphisms. | Vívenes M et al. | 2012 | Thrombosis research |
| 23209669 | Effect of the Gas6 c.834+7G>A polymorphism and the interaction of known risk factors on AMD pathogenesis in Hungarian patients. | Losonczy G et al. | 2012 | PloS one |
| 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 |
| 25156046 | Genetic polymorphisms influencing total and γ' fibrinogen levels and fibrin clot properties in Africans. | Kotzé RC et al. | 2015 | British journal of haematology |
| 25341889 | Multilocus genetic risk scores for venous thromboembolism risk assessment. | Soria JM et al. | 2014 | Journal of the American Heart Association |
| 25360888 | Genetic determinants of on-aspirin platelet reactivity: focus on the influence of PEAR1. | Würtz M et al. | 2014 | PloS one |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 25862345 | Genetic association between FXIII and β-fibrinogen genes and women with recurrent spontaneous abortion: a meta- analysis. | Li J et al. | 2015 | Journal of assisted reproduction and genetics |
| 26307969 | Effect of Factor XIII-A G185T Polymorphism on Visual Prognosis after Photodynamic Therapy for Neovascular Macular Degeneration. | Parmeggiani F et al. | 2015 | International journal of molecular sciences |
| 26791477 | The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study. | Do AN et al. | 2016 | Journal of human hypertension |
| 27253732 | Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. | Lee EM et al. | 2016 | Genetics in medicine |
| 27589735 | A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification. | Ponasenko AV et al. | 2016 | International journal of molecular sciences |
| 27766050 | Causes of venous thrombosis. | Rosendaal FR et al. | 2016 | Thrombosis journal |
| 27976734 | The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease. | Martin-Fernandez L et al. | 2016 | Scientific reports |
| 28978253 | Coagulation F13A1 V34L, fibrinogen and homocysteine versus conventional risk factors in the pathogenesis of MI in young persons. | Vishwajeet V et al. | 2018 | Acta cardiologica |
| 30185149 | Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population. | Suvatha A et al. | 2018 | BMC medical genetics |
| 30446716 | Inherited genetic predispositions in F13A1 and F13B genes predict abdominal adhesion formation: identification of gender prognostic indicators. | Gemmati D et al. | 2018 | Scientific reports |
| 31058051 | Recurrent Miscarriage and Implantation Failure of Unknown Cause Studied by a Panel of Thrombophilia Conditions: Increased Frequency of FXIII Val34Leu Polymorphism. | Diaz-Nuñez M et al. | 2019 | Journal of reproduction & infertility |
| 31615384 | [Hemostatic Gene Polymorphisms in Acute Coronary Syndrome with Nonobstructive Coronary Atherosclerosis]. | Fedorova SB et al. | 2019 | Kardiologiia |
| 32408093 | Fibrinogen, factor XIII and α(2)-antiplasmin genotypes are associated with inflammatory activity and anti-citrullinated protein antibodies. | Hoppe B et al. | 2020 | Thrombosis research |
| 32548915 | Coagulation factor XIII activity predicts left ventricular remodelling after acute myocardial infarction. | Frey A et al. | 2020 | ESC heart failure |
| 33128086 | Genetic association study of fatal pulmonary embolism. | Meißner L et al. | 2021 | International journal of legal medicine |
| 34207366 | Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia. | Gemmati D et al. | 2021 | Genes |
| 34263111 | Predictive Ability of a Clinical-Genetic Risk Score for Venous Thromboembolism in Northern and Southern European Populations. | Salas E et al. | 2021 | TH open |
| 34783023 | Fibrinogen β chain and FXIII polymorphisms affect fibrin clot properties in acute pulmonary embolism. | Klajmon A et al. | 2022 | European journal of clinical investigation |
| 35671883 | Factor XIII-A Val34Leu and Tyr204Phe variants influence clot kinetics in a cohort of South African type 2 diabetes mellitus patients. | Phasha MN et al. | 2022 | Gene |
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.