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.
rs10941679
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:44706396 (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
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.257312 (68108/264690, TOPMED)G=0.246041 (34434/139952, GnomAD)G=0.29554 (23258/78696, PAGE_STUDY) (+ 21 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
None
- Publications
- 82 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 | 67370 | A=0.74315 | G=0.25685 | 0.557132 | 0.070833 | 0.372035 | 12 |
| European | Sub | 49254 | A=0.74847 | G=0.25153 | 0.563325 | 0.066391 | 0.370285 | 4 |
| African | Sub | 7926 | A=0.8053 | G=0.1947 | 0.650265 | 0.039616 | 0.310119 | 0 |
| African Others | Sub | 262 | A=0.859 | G=0.141 | 0.740458 | 0.022901 | 0.236641 | 0 |
| African American | Sub | 7664 | A=0.8035 | G=0.1965 | 0.647182 | 0.040188 | 0.31263 | 0 |
| Asian | Sub | 522 | A=0.487 | G=0.513 | 0.245211 | 0.272031 | 0.482759 | 0 |
| East Asian | Sub | 454 | A=0.511 | G=0.489 | 0.264317 | 0.242291 | 0.493392 | 0 |
| Other Asian | Sub | 68 | A=0.32 | G=0.68 | 0.117647 | 0.470588 | 0.411765 | 0 |
| Latin American 1 | Sub | 582 | A=0.706 | G=0.294 | 0.484536 | 0.072165 | 0.443299 | 1 |
| Latin American 2 | Sub | 4892 | A=0.6251 | G=0.3749 | 0.393704 | 0.1435 | 0.462796 | 0 |
| South Asian | Sub | 170 | A=0.641 | G=0.359 | 0.388235 | 0.105882 | 0.505882 | 1 |
| Other | Sub | 4024 | A=0.7420 | G=0.2580 | 0.554672 | 0.070577 | 0.374751 | 1 |
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 | A=0.742688 | G=0.257312 |
| gnomAD - Genomes | Global | Study-wide | 139952 | A=0.753959 | G=0.246041 |
| gnomAD - Genomes | European | Sub | 75810 | A=0.74732 | G=0.25268 |
| gnomAD - Genomes | African | Sub | 41974 | A=0.81084 | G=0.18916 |
| gnomAD - Genomes | American | Sub | 13598 | A=0.66142 | G=0.33858 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.8293 | G=0.1707 |
| gnomAD - Genomes | East Asian | Sub | 3102 | A=0.4829 | G=0.5171 |
| gnomAD - Genomes | Other | Sub | 2146 | A=0.7377 | G=0.2623 |
| The PAGE Study | Global | Study-wide | 78696 | A=0.70446 | G=0.29554 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.80551 | G=0.19449 |
| The PAGE Study | Mexican | Sub | 10808 | A=0.65840 | G=0.34160 |
| The PAGE Study | Asian | Sub | 8318 | A=0.4844 | G=0.5156 |
| The PAGE Study | PuertoRican | Sub | 7914 | A=0.7087 | G=0.2913 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.4914 | G=0.5086 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.7565 | G=0.2435 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.7662 | G=0.2338 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.6069 | G=0.3931 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.6181 | G=0.3819 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.6849 | G=0.3151 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.650 | G=0.350 |
| Allele Frequency Aggregator | Total | Global | 67370 | A=0.74315 | G=0.25685 |
| Allele Frequency Aggregator | European | Sub | 49254 | A=0.74847 | G=0.25153 |
| Allele Frequency Aggregator | African | Sub | 7926 | A=0.8053 | G=0.1947 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 4892 | A=0.6251 | G=0.3749 |
| Allele Frequency Aggregator | Other | Sub | 4024 | A=0.7420 | G=0.2580 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 582 | A=0.706 | G=0.294 |
| Allele Frequency Aggregator | Asian | Sub | 522 | A=0.487 | G=0.513 |
| Allele Frequency Aggregator | South Asian | Sub | 170 | A=0.641 | G=0.359 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.51727 | G=0.48273 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.51718 | G=0.48282 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.6939 | G=0.3061 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.8208 | G=0.1792 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.7717 | G=0.2283 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.6514 | G=0.3486 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.5239 | G=0.4761 |
| 1000Genomes_30x | American | Sub | 980 | A=0.617 | G=0.383 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.6839 | G=0.3161 |
| 1000Genomes | African | Sub | 1322 | A=0.8177 | G=0.1823 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.5129 | G=0.4871 |
| 1000Genomes | Europe | Sub | 1006 | A=0.7674 | G=0.2326 |
| 1000Genomes | South Asian | Sub | 978 | A=0.643 | G=0.357 |
| 1000Genomes | American | Sub | 694 | A=0.614 | G=0.386 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.7161 | G=0.2839 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.7340 | G=0.2660 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.7427 | G=0.2573 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2928 | A=0.5208 | G=0.4792 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.5267 | G=0.4733 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | A=0.7148 | G=0.2852 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | A=0.737 | G=0.263 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.722 | G=0.278 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=0.680 | G=0.320 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.704 | G=0.296 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=0.61 | G=0.39 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.72 | G=0.28 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.729 | G=0.271 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | A=0.516 | G=0.484 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | A=0.516 | G=0.484 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.783 | G=0.217 |
| HapMap | Global | Study-wide | 330 | A=0.721 | G=0.279 |
| HapMap | African | Sub | 120 | A=0.833 | G=0.167 |
| HapMap | American | Sub | 120 | A=0.758 | G=0.242 |
| HapMap | Asian | Sub | 90 | A=0.52 | G=0.48 |
| SGDP_PRJ | Global | Study-wide | 310 | A=0.316 | G=0.684 |
| Qatari | Global | Study-wide | 216 | A=0.699 | G=0.301 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | A=0.538 | G=0.462 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.65 | G=0.35 |
| Siberian | Global | Study-wide | 32 | A=0.34 | G=0.66 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 14 | A=0.57 | G=0.43 |
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 5 | NC_000005.10:g.44706396A>G |
| GRCh37.p13 chr 5 | NC_000005.9:g.44706498A>G |
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.
Not Reported in ClinVar
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 | A= | G |
|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.44706396= | NC_000005.10:g.44706396A>G |
| GRCh37.p13 chr 5 | NC_000005.9:g.44706498= | NC_000005.9:g.44706498A>G |
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#.
88 SubSNP,
24 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_SNP | ss18363570 | Feb 27, 2004 (120) |
| 2 | CSHL-HAPMAP | ss20232203 | Feb 27, 2004 (120) |
| 3 | PERLEGEN | ss23988365 | Sep 20, 2004 (123) |
| 4 | PERLEGEN | ss68933880 | May 17, 2007 (127) |
| 5 | HGSV | ss81629118 | Dec 15, 2007 (130) |
| 6 | BCMHGSC_JDW | ss93080749 | Mar 24, 2008 (129) |
| 7 | BGI | ss104191224 | Dec 01, 2009 (131) |
| 8 | SNP500CANCER | ss105438696 | Feb 05, 2009 (130) |
| 9 | 1000GENOMES | ss111775254 | Jan 25, 2009 (130) |
| 10 | ILLUMINA-UK | ss116594716 | Feb 14, 2009 (130) |
| 11 | ENSEMBL | ss143093036 | Dec 01, 2009 (131) |
| 12 | GMI | ss155368804 | Dec 01, 2009 (131) |
| 13 | ILLUMINA | ss159941332 | Dec 01, 2009 (131) |
| 14 | COMPLETE_GENOMICS | ss162222538 | Jul 04, 2010 (132) |
| 15 | COMPLETE_GENOMICS | ss164840288 | Jul 04, 2010 (132) |
| 16 | COMPLETE_GENOMICS | ss166486953 | Jul 04, 2010 (132) |
| 17 | BCM-HGSC-SUB | ss207154374 | Jul 04, 2010 (132) |
| 18 | 1000GENOMES | ss221655718 | Jul 14, 2010 (132) |
| 19 | 1000GENOMES | ss232927851 | Jul 14, 2010 (132) |
| 20 | 1000GENOMES | ss240105365 | Jul 15, 2010 (132) |
| 21 | GMI | ss278268424 | May 04, 2012 (137) |
| 22 | GMI | ss285166867 | Apr 25, 2013 (138) |
| 23 | PAGE_STUDY | ss469414471 | May 04, 2012 (137) |
| 24 | PAGE_STUDY | ss469415176 | May 04, 2012 (137) |
| 25 | ILLUMINA | ss479831332 | Sep 08, 2015 (146) |
| 26 | ILLUMINA | ss534634383 | Sep 08, 2015 (146) |
| 27 | TISHKOFF | ss558364414 | Apr 25, 2013 (138) |
| 28 | SSMP | ss652222249 | Apr 25, 2013 (138) |
| 29 | EVA-GONL | ss981512330 | Aug 21, 2014 (142) |
| 30 | JMKIDD_LAB | ss1072592376 | Aug 21, 2014 (142) |
| 31 | 1000GENOMES | ss1314891888 | Aug 21, 2014 (142) |
| 32 | HAMMER_LAB | ss1397411773 | Sep 08, 2015 (146) |
| 33 | DDI | ss1430326874 | Apr 01, 2015 (144) |
| 34 | EVA_GENOME_DK | ss1581118658 | Apr 01, 2015 (144) |
| 35 | EVA_DECODE | ss1591035817 | Apr 01, 2015 (144) |
| 36 | EVA_UK10K_ALSPAC | ss1612785743 | Apr 01, 2015 (144) |
| 37 | EVA_UK10K_TWINSUK | ss1655779776 | Apr 01, 2015 (144) |
| 38 | WEILL_CORNELL_DGM | ss1924772543 | Feb 12, 2016 (147) |
| 39 | ILLUMINA | ss1958784621 | Feb 12, 2016 (147) |
| 40 | GENOMED | ss1970078004 | Jul 19, 2016 (147) |
| 41 | JJLAB | ss2022990222 | Sep 14, 2016 (149) |
| 42 | USC_VALOUEV | ss2151142069 | Dec 20, 2016 (150) |
| 43 | HUMAN_LONGEVITY | ss2273382731 | Dec 20, 2016 (150) |
| 44 | SYSTEMSBIOZJU | ss2625993407 | Nov 08, 2017 (151) |
| 45 | ILLUMINA | ss2635143511 | Nov 08, 2017 (151) |
| 46 | GRF | ss2706680754 | Nov 08, 2017 (151) |
| 47 | ILLUMINA | ss2711035602 | Nov 08, 2017 (151) |
| 48 | GNOMAD | ss2823968967 | Nov 08, 2017 (151) |
| 49 | AFFY | ss2985951282 | Nov 08, 2017 (151) |
| 50 | SWEGEN | ss2996839519 | Nov 08, 2017 (151) |
| 51 | ILLUMINA | ss3022485733 | Nov 08, 2017 (151) |
| 52 | BIOINF_KMB_FNS_UNIBA | ss3025279724 | Nov 08, 2017 (151) |
| 53 | CSHL | ss3346363724 | Nov 08, 2017 (151) |
| 54 | ILLUMINA | ss3629226856 | Oct 12, 2018 (152) |
| 55 | ILLUMINA | ss3636710985 | Oct 12, 2018 (152) |
| 56 | ILLUMINA | ss3652981229 | Oct 12, 2018 (152) |
| 57 | EGCUT_WGS | ss3664738291 | Jul 13, 2019 (153) |
| 58 | EVA_DECODE | ss3714587540 | Jul 13, 2019 (153) |
| 59 | ILLUMINA | ss3726230245 | Jul 13, 2019 (153) |
| 60 | ACPOP | ss3732312629 | Jul 13, 2019 (153) |
| 61 | EVA | ss3763370077 | Jul 13, 2019 (153) |
| 62 | PAGE_CC | ss3771199850 | Jul 13, 2019 (153) |
| 63 | KHV_HUMAN_GENOMES | ss3806544415 | Jul 13, 2019 (153) |
| 64 | EVA | ss3829221916 | Apr 26, 2020 (154) |
| 65 | SGDP_PRJ | ss3861745098 | Apr 26, 2020 (154) |
| 66 | KRGDB | ss3908232669 | Apr 26, 2020 (154) |
| 67 | KOGIC | ss3956543975 | Apr 26, 2020 (154) |
| 68 | EVA | ss3984546412 | Apr 26, 2021 (155) |
| 69 | EVA | ss3985138541 | Apr 26, 2021 (155) |
| 70 | TOPMED | ss4658121498 | Apr 26, 2021 (155) |
| 71 | TOMMO_GENOMICS | ss5171495358 | Apr 26, 2021 (155) |
| 72 | EVA | ss5237370806 | Apr 26, 2021 (155) |
| 73 | 1000G_HIGH_COVERAGE | ss5263757076 | Oct 13, 2022 (156) |
| 74 | EVA | ss5357231430 | Oct 13, 2022 (156) |
| 75 | HUGCELL_USP | ss5462000468 | Oct 13, 2022 (156) |
| 76 | EVA | ss5508004302 | Oct 13, 2022 (156) |
| 77 | 1000G_HIGH_COVERAGE | ss5547277783 | Oct 13, 2022 (156) |
| 78 | SANFORD_IMAGENETICS | ss5624588194 | Oct 13, 2022 (156) |
| 79 | SANFORD_IMAGENETICS | ss5637700152 | Oct 13, 2022 (156) |
| 80 | TOMMO_GENOMICS | ss5707476749 | Oct 13, 2022 (156) |
| 81 | YY_MCH | ss5806240017 | Oct 13, 2022 (156) |
| 82 | EVA | ss5834862068 | Oct 13, 2022 (156) |
| 83 | EVA | ss5847265581 | Oct 13, 2022 (156) |
| 84 | EVA | ss5848048224 | Oct 13, 2022 (156) |
| 85 | EVA | ss5854793642 | Oct 13, 2022 (156) |
| 86 | EVA | ss5893981047 | Oct 13, 2022 (156) |
| 87 | EVA | ss5966122829 | Oct 13, 2022 (156) |
| 88 | EVA | ss5979738460 | Oct 13, 2022 (156) |
| 89 | 1000Genomes | NC_000005.9 - 44706498 | Oct 12, 2018 (152) |
| 90 | 1000Genomes_30x | NC_000005.10 - 44706396 | Oct 13, 2022 (156) |
| 91 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 44706498 | Oct 12, 2018 (152) |
| 92 | Genome-wide autozygosity in Daghestan | NC_000005.8 - 44742255 | Apr 26, 2020 (154) |
| 93 | Genetic variation in the Estonian population | NC_000005.9 - 44706498 | Oct 12, 2018 (152) |
| 94 | The Danish reference pan genome | NC_000005.9 - 44706498 | Apr 26, 2020 (154) |
| 95 | gnomAD - Genomes | NC_000005.10 - 44706396 | Apr 26, 2021 (155) |
| 96 | Genome of the Netherlands Release 5 | NC_000005.9 - 44706498 | Apr 26, 2020 (154) |
| 97 | HapMap | NC_000005.10 - 44706396 | Apr 26, 2020 (154) |
| 98 | KOREAN population from KRGDB | NC_000005.9 - 44706498 | Apr 26, 2020 (154) |
| 99 | Korean Genome Project | NC_000005.10 - 44706396 | Apr 26, 2020 (154) |
| 100 | Northern Sweden | NC_000005.9 - 44706498 | Jul 13, 2019 (153) |
| 101 | The PAGE Study | NC_000005.10 - 44706396 | Jul 13, 2019 (153) |
| 102 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000005.9 - 44706498 | Apr 26, 2021 (155) |
| 103 | CNV burdens in cranial meningiomas | NC_000005.9 - 44706498 | Apr 26, 2021 (155) |
| 104 | Qatari | NC_000005.9 - 44706498 | Apr 26, 2020 (154) |
| 105 | SGDP_PRJ | NC_000005.9 - 44706498 | Apr 26, 2020 (154) |
| 106 | Siberian | NC_000005.9 - 44706498 | Apr 26, 2020 (154) |
| 107 | 8.3KJPN | NC_000005.9 - 44706498 | Apr 26, 2021 (155) |
| 108 | 14KJPN | NC_000005.10 - 44706396 | Oct 13, 2022 (156) |
| 109 | TopMed | NC_000005.10 - 44706396 | Apr 26, 2021 (155) |
| 110 | UK 10K study - Twins | NC_000005.9 - 44706498 | Oct 12, 2018 (152) |
| 111 | A Vietnamese Genetic Variation Database | NC_000005.9 - 44706498 | Jul 13, 2019 (153) |
| 112 | ALFA | NC_000005.10 - 44706396 | Apr 26, 2021 (155) |
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) |
|---|---|
| rs59256915 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 386828, ss81629118, ss93080749, ss111775254, ss116594716, ss162222538, ss164840288, ss166486953, ss207154374, ss278268424, ss285166867, ss1397411773, ss1591035817, ss2635143511 | NC_000005.8:44742254:A:G | NC_000005.10:44706395:A:G | (self) |
| 26484849, 14728405, 10476539, 7283597, 6546675, 15410063, 5597494, 364468, 95777, 6814473, 13762078, 3658423, 29464665, 14728405, 3273534, ss221655718, ss232927851, ss240105365, ss479831332, ss534634383, ss558364414, ss652222249, ss981512330, ss1072592376, ss1314891888, ss1430326874, ss1581118658, ss1612785743, ss1655779776, ss1924772543, ss1958784621, ss1970078004, ss2022990222, ss2151142069, ss2625993407, ss2706680754, ss2711035602, ss2823968967, ss2985951282, ss2996839519, ss3022485733, ss3346363724, ss3629226856, ss3636710985, ss3652981229, ss3664738291, ss3732312629, ss3763370077, ss3829221916, ss3861745098, ss3908232669, ss3984546412, ss3985138541, ss5171495358, ss5237370806, ss5357231430, ss5508004302, ss5624588194, ss5637700152, ss5834862068, ss5847265581, ss5848048224, ss5966122829, ss5979738460 | NC_000005.9:44706497:A:G | NC_000005.10:44706395:A:G | (self) |
| 34803718, 187091921, 2858379, 12921976, 421319, 41313853, 495499055, 4482876159, ss2273382731, ss3025279724, ss3714587540, ss3726230245, ss3771199850, ss3806544415, ss3956543975, ss4658121498, ss5263757076, ss5462000468, ss5547277783, ss5707476749, ss5806240017, ss5854793642, ss5893981047 | NC_000005.10:44706395:A:G | NC_000005.10:44706395:A:G | (self) |
| ss18363570, ss20232203 | NT_006576.14:27158603:A:G | NC_000005.10:44706395:A:G | (self) |
| ss23988365, ss68933880, ss104191224, ss105438696, ss143093036, ss155368804, ss159941332, ss469414471, ss469415176 | NT_006576.16:44696497:A:G | NC_000005.10:44706395:A:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
82
citations for rs10941679
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18438407 | Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. | Stacey SN et al. | 2008 | Nature genetics |
| 19088016 | Genetic susceptibility loci for breast cancer by estrogen receptor status. | Garcia-Closas M et al. | 2008 | Clinical cancer research |
| 19232126 | Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort. | Woolcott CG et al. | 2009 | Breast cancer research |
| 19330030 | A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). | Thomas G et al. | 2009 | Nature genetics |
| 19519208 | Polygenic susceptibility to breast cancer: current state-of-the-art. | Ghoussaini M et al. | 2009 | Future oncology (London, England) |
| 19567422 | Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. | Milne RL et al. | 2009 | Journal of the National Cancer Institute |
| 19789366 | Evaluation of 11 breast cancer susceptibility loci in African-American women. | Zheng W et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 20095854 | Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists. | Bhatti P et al. | 2010 | Radiation research |
| 20140701 | Genetic variants on chromosome 5p12 are associated with risk of breast cancer in African American women: the Black Women's Health Study. | Ruiz-Narvaez EA et al. | 2010 | Breast cancer research and treatment |
| 20146796 | Familial relative risks for breast cancer by pathological subtype: a population-based cohort study. | Mavaddat N et al. | 2010 | Breast cancer research |
| 20418484 | Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. | Wang X et al. | 2010 | Human molecular genetics |
| 20453838 | Genome-wide association study identifies five new breast cancer susceptibility loci. | Turnbull C et al. | 2010 | Nature genetics |
| 20484103 | Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women. | Zheng W et al. | 2010 | Journal of the National Cancer Institute |
| 20585100 | Genome-wide association studies of cancer. | Stadler ZK et al. | 2010 | Journal of clinical oncology |
| 20699374 | Evaluation of breast cancer susceptibility loci in Chinese women. | Long J et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 21037853 | Breast cancer in the personal genomics era. | Ellsworth RE et al. | 2010 | Current genomics |
| 21102626 | Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations. | Chen F et al. | 2011 | European journal of human genetics |
| 21118973 | Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. | Antoniou AC et al. | 2010 | Cancer research |
| 21194473 | Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. | Milne RL et al. | 2010 | Breast cancer research |
| 21219822 | [Recent progress in genetic variants associated with cancer and their implications in diagnostics development]. | Cho WC et al. | 2011 | Zhongguo fei ai za zhi = Chinese journal of lung cancer |
| 21514219 | Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Zhang B et al. | 2011 | The Lancet. Oncology |
| 21791674 | Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. | Campa D et al. | 2011 | Journal of the National Cancer Institute |
| 21795498 | Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. | Milne RL et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
| 21795501 | Replication of breast cancer GWAS susceptibility loci in the Women's Health Initiative African American SHARe Study. | Hutter CM et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
| 21844186 | Common breast cancer susceptibility loci are associated with triple-negative breast cancer. | Stevens KN et al. | 2011 | Cancer research |
| 21949660 | Genetic variants at chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 influence the risk of breast cancer in men. | Orr N et al. | 2011 | PLoS genetics |
| 22028405 | Estimating causal effects of genetic risk variants for breast cancer using marker data from bilateral and familial cases. | Dudbridge F et al. | 2012 | Cancer epidemiology, biomarkers & prevention |
| 22045194 | Combined effect of low-penetrant SNPs on breast cancer risk. | Harlid S et al. | 2012 | British journal of cancer |
| 22053997 | Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. | Mulligan AM et al. | 2011 | Breast cancer research |
| 22269215 | Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women. | Dai J et al. | 2012 | Breast cancer research |
| 22314178 | Breast cancer risk prediction and individualised screening based on common genetic variation and breast density measurement. | Darabi H et al. | 2012 | Breast cancer research |
| 22357627 | Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry. | Huo D et al. | 2012 | Carcinogenesis |
| 22454379 | Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. | Vachon CM et al. | 2012 | Cancer epidemiology, biomarkers & prevention |
| 22532573 | The role of genetic breast cancer susceptibility variants as prognostic factors. | Fasching PA et al. | 2012 | Human molecular genetics |
| 22747683 | Genetic variants associated with breast size also influence breast cancer risk. | Eriksson N et al. | 2012 | BMC medical genetics |
| 22778704 | The association between single-nucleotide polymorphisms of ORAI1 gene and breast cancer in a Taiwanese population. | Chang WC et al. | 2012 | TheScientificWorldJournal |
| 22806168 | A multistage genetic association study identifies breast cancer risk loci at 10q25 and 16q24. | Higginbotham KS et al. | 2012 | Cancer epidemiology, biomarkers & prevention |
| 22972951 | Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status. | Hüsing A et al. | 2012 | Journal of medical genetics |
| 23221726 | Gene-environment interactions for breast cancer risk among Chinese women: a report from the Shanghai Breast Cancer Genetics Study. | Li H et al. | 2013 | American journal of epidemiology |
| 23318652 | Hereditary breast cancer in the Han Chinese population. | Cao W et al. | 2013 | Journal of epidemiology |
| 23486537 | Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations. | Barzan D et al. | 2013 | European journal of human genetics |
| 23535825 | Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls. | Zheng W et al. | 2013 | Human molecular genetics |
| 23544014 | Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. | Nickels S et al. | 2013 | PLoS genetics |
| 23593120 | Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. | Long J et al. | 2013 | PloS one |
| 23635555 | The relationship between eight GWAS-identified single-nucleotide polymorphisms and primary breast cancer outcomes. | Bayraktar S et al. | 2013 | The oncologist |
| 23717390 | Identification of a breast cancer susceptibility locus at 4q31.22 using a genome-wide association study paradigm. | Sapkota Y et al. | 2013 | PloS one |
| 23893088 | The associations between a polygenic score, reproductive and menstrual risk factors and breast cancer risk. | Warren Andersen S et al. | 2013 | Breast cancer research and treatment |
| 24025454 | Hereditary breast cancer: ever more pieces to the polygenic puzzle. | Bogdanova N et al. | 2013 | Hereditary cancer in clinical practice |
| 24171766 | Common low-penetrance risk variants associated with breast cancer in Polish women. | Ledwoń JK et al. | 2013 | BMC cancer |
| 24218030 | Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. | O'Brien KM et al. | 2014 | American journal of epidemiology |
| 24266904 | Breast cancer prediction using genome wide single nucleotide polymorphism data. | Hajiloo M et al. | 2013 | BMC bioinformatics |
| 24359602 | Common breast cancer risk variants in the post-COGS era: a comprehensive review. | Maxwell KN et al. | 2013 | Breast cancer research |
| 24373701 | Breast cancer susceptibility loci in association with age at menarche, age at natural menopause and the reproductive lifespan. | Warren Andersen S et al. | 2014 | Cancer epidemiology |
| 24743323 | Genetic predisposition to in situ and invasive lobular carcinoma of the breast. | Sawyer E et al. | 2014 | PLoS genetics |
| 24771903 | Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis. | Fasching PA et al. | 2013 | Geburtshilfe und Frauenheilkunde |
| 24792587 | Reproductive windows, genetic loci, and breast cancer risk. | Warren Andersen S et al. | 2014 | Annals of epidemiology |
| 24875630 | Validation of six genetic determinants of susceptibility to estrogen-induced mammary cancer in the rat and assessment of their relevance to breast cancer risk in humans. | Colletti JA 2nd et al. | 2014 | G3 (Bethesda, Md.) |
| 24895409 | Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79,000 women. | Barrdahl M et al. | 2014 | Human molecular genetics |
| 24941967 | Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese population. | Lee CP et al. | 2014 | Breast cancer research |
| 25027274 | Testing calibration of risk models at extremes of disease risk. | Song M et al. | 2015 | Biostatistics (Oxford, England) |
| 25057183 | A robust association test for detecting genetic variants with heterogeneous effects. | Yu K et al. | 2015 | Biostatistics (Oxford, England) |
| 25253900 | Breast Cancer Risk - Genes, Environment and Clinics. | Fasching PA et al. | 2011 | Geburtshilfe und Frauenheilkunde |
| 25255808 | Additive interactions between susceptibility single-nucleotide polymorphisms identified in genome-wide association studies and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium. | Joshi AD et al. | 2014 | American journal of epidemiology |
| 25611573 | Association of breast cancer risk loci with breast cancer survival. | Barrdahl M et al. | 2015 | International journal of cancer |
| 26070784 | Genetic risk variants associated with in situ breast cancer. | Campa D et al. | 2015 | Breast cancer research |
| 26510858 | Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity. | Dorling L et al. | 2016 | Clinical cancer research |
| 26559640 | Automated amplicon design suitable for analysis of DNA variants by melting techniques. | Ekstrøm PO et al. | 2015 | BMC research notes |
| 26884359 | Genetic predisposition to ductal carcinoma in situ of the breast. | Petridis C et al. | 2016 | Breast cancer research |
| 27022606 | Associations of Genetic Variants at Nongenic Susceptibility Loci with Breast Cancer Risk and Heterogeneity by Tumor Subtype in Southern Han Chinese Women. | Liang H et al. | 2016 | BioMed research international |
| 27392074 | The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study. | Dorling L et al. | 2016 | PloS one |
| 27438779 | Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families. | Muranen TA et al. | 2016 | Breast cancer research and treatment |
| 27640304 | Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation. | Ghoussaini M et al. | 2016 | American journal of human genetics |
| 28098224 | Association of Genome-Wide Association Study (GWAS) Identified SNPs and Risk of Breast Cancer in an Indian Population. | Nagrani R et al. | 2017 | Scientific reports |
| 28152060 | Expression Quantitative Trait loci (QTL) in tumor adjacent normal breast tissue and breast tumor tissue. | Quiroz-Zárate A et al. | 2017 | PloS one |
| 28178648 | Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. | Kuo SH et al. | 2017 | Oncotarget |
| 29382703 | Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future. | Lilyquist J et al. | 2018 | Cancer epidemiology, biomarkers & prevention |
| 29445177 | Validating a breast cancer score in Spanish women. The MCC-Spain study. | Dierssen-Sotos T et al. | 2018 | Scientific reports |
| 30078824 | Two polymorphisms, rs2046210 and rs3803662, are associated with breast cancer risk in a Vietnamese case-control cohort. | Thanh NTN et al. | 2018 | Genes & genetic systems |
| 31142340 | FGFs/FGFRs-dependent signalling in regulation of steroid hormone receptors - implications for therapy of luminal breast cancer. | Piasecka D et al. | 2019 | Journal of experimental & clinical cancer research |
| 32022527 | Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities. | Cifuentes-C L et al. | 2020 | International braz j urol |
| 35395775 | Development and validation of polygenic risk scores for prediction of breast cancer and breast cancer subtypes in Chinese women. | Hou C et al. | 2022 | BMC cancer |
| 35990505 | Investigating the relationship between cancer and orofacial clefts using GWAS significant loci for cancers: A case-control and case-triad study. | Fashina A et al. | 2022 | Frontiers in oral health |
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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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.