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.
rs1667394
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:28285036 (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
-
C=0.245030 (79474/324344, ALFA)C=0.448472 (118706/264690, TOPMED)C=0.389686 (54083/138786, GnomAD) (+ 18 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- HERC2 : Intron Variant
- Publications
- 12 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: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 324438 | C=0.245073 | A=0.000000, T=0.754927 |
| European | Sub | 277400 | C=0.190768 | A=0.000000, T=0.809232 |
| African | Sub | 10718 | C=0.82291 | A=0.00000, T=0.17709 |
| African Others | Sub | 400 | C=0.948 | A=0.000, T=0.052 |
| African American | Sub | 10318 | C=0.81808 | A=0.00000, T=0.18192 |
| Asian | Sub | 6876 | C=0.7453 | A=0.0000, T=0.2547 |
| East Asian | Sub | 4938 | C=0.7570 | A=0.0000, T=0.2430 |
| Other Asian | Sub | 1938 | C=0.7157 | A=0.0000, T=0.2843 |
| Latin American 1 | Sub | 1130 | C=0.4434 | A=0.0000, T=0.5566 |
| Latin American 2 | Sub | 7184 | C=0.4182 | A=0.0000, T=0.5818 |
| South Asian | Sub | 5224 | C=0.6261 | A=0.0000, T=0.3739 |
| Other | Sub | 15906 | C=0.36911 | A=0.00000, T=0.63089 |
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 | 324344 | C=0.245030 | A=0.000000, T=0.754970 |
| Allele Frequency Aggregator | European | Sub | 277324 | C=0.190708 | A=0.000000, T=0.809292 |
| Allele Frequency Aggregator | Other | Sub | 15888 | C=0.36915 | A=0.00000, T=0.63085 |
| Allele Frequency Aggregator | African | Sub | 10718 | C=0.82291 | A=0.00000, T=0.17709 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7184 | C=0.4182 | A=0.0000, T=0.5818 |
| Allele Frequency Aggregator | Asian | Sub | 6876 | C=0.7453 | A=0.0000, T=0.2547 |
| Allele Frequency Aggregator | South Asian | Sub | 5224 | C=0.6261 | A=0.0000, T=0.3739 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1130 | C=0.4434 | A=0.0000, T=0.5566 |
| TopMed | Global | Study-wide | 264690 | C=0.448472 | T=0.551528 |
| gnomAD - Genomes | Global | Study-wide | 138786 | C=0.389686 | T=0.610314 |
| gnomAD - Genomes | European | Sub | 75652 | C=0.14297 | T=0.85703 |
| gnomAD - Genomes | African | Sub | 41122 | C=0.80735 | T=0.19265 |
| gnomAD - Genomes | American | Sub | 13492 | C=0.43685 | T=0.56315 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3318 | C=0.2676 | T=0.7324 |
| gnomAD - Genomes | East Asian | Sub | 3068 | C=0.7529 | T=0.2471 |
| gnomAD - Genomes | Other | Sub | 2134 | C=0.4569 | T=0.5431 |
| 14KJPN | JAPANESE | Study-wide | 28236 | C=0.77568 | T=0.22432 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.76856 | T=0.23144 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.6188 | T=0.3812 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9110 | T=0.0890 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.2425 | T=0.7575 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.6265 | T=0.3735 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.7316 | T=0.2684 |
| 1000Genomes_30x | American | Sub | 980 | C=0.429 | T=0.571 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.6204 | T=0.3796 |
| 1000Genomes | African | Sub | 1322 | C=0.9130 | T=0.0870 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.7292 | T=0.2708 |
| 1000Genomes | Europe | Sub | 1006 | C=0.2435 | T=0.7565 |
| 1000Genomes | South Asian | Sub | 978 | C=0.632 | T=0.368 |
| 1000Genomes | American | Sub | 694 | C=0.435 | T=0.565 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.1617 | T=0.8383 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.1572 | T=0.8428 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.7529 | T=0.2471 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | C=0.6238 | T=0.3762 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.755 | T=0.245 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.633 | T=0.367 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.569 | T=0.431 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.300 | T=0.700 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.963 | T=0.037 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.519 | T=0.481 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.60 | T=0.40 |
| HapMap | Global | Study-wide | 1876 | C=0.6919 | T=0.3081 |
| HapMap | American | Sub | 762 | C=0.497 | T=0.503 |
| HapMap | African | Sub | 684 | C=0.943 | T=0.057 |
| HapMap | Asian | Sub | 254 | C=0.783 | T=0.217 |
| HapMap | Europe | Sub | 176 | C=0.426 | T=0.574 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | C=0.4947 | T=0.5053 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.500 | T=0.500 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.562 | T=0.438 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.541 | T=0.459 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.185 | T=0.815 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.61 | T=0.39 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.58 | T=0.42 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.080 | T=0.920 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | C=0.739 | T=0.261 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | C=0.739 | T=0.261 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.088 | T=0.912 |
| SGDP_PRJ | Global | Study-wide | 324 | C=0.321 | T=0.679 |
| Qatari | Global | Study-wide | 216 | C=0.694 | T=0.306 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 64 | C=0.56 | T=0.44 |
| Siberian | Global | Study-wide | 46 | C=0.11 | T=0.89 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.07 | T=0.93 |
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 15 | NC_000015.10:g.28285036C>A |
| GRCh38.p14 chr 15 | NC_000015.10:g.28285036C>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.28530182C>A |
| GRCh37.p13 chr 15 | NC_000015.9:g.28530182C>T |
| HERC2 RefSeqGene | NG_016355.1:g.42114G>T |
| HERC2 RefSeqGene | NG_016355.1:g.42114G>A |
| GRCh38.p14 chr 15 fix patch HG2139_PATCH | NW_011332701.1:g.418481T>C |
| GRCh38.p14 chr 15 fix patch HG2139_PATCH | NW_011332701.1:g.418481T>A |
| GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 | NT_187660.1:g.532267T>C |
| GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 | NT_187660.1:g.532267T>A |
Gene: HERC2, HECT and RLD domain containing E3 ubiquitin protein ligase 2
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HERC2 transcript | NM_004667.6:c.323-4749G>T | N/A | Intron Variant |
| HERC2 transcript variant X5 |
XM_005268276.6:c.209-4749… XM_005268276.6:c.209-4749G>T |
N/A | Intron Variant |
| HERC2 transcript variant X1 |
XM_006720726.4:c.323-4749… XM_006720726.4:c.323-4749G>T |
N/A | Intron Variant |
| HERC2 transcript variant X6 |
XM_006720727.4:c.323-4749… XM_006720727.4:c.323-4749G>T |
N/A | Intron Variant |
| HERC2 transcript variant X3 |
XM_017022695.1:c.209-4749… XM_017022695.1:c.209-4749G>T |
N/A | Intron Variant |
| HERC2 transcript variant X4 |
XM_017022696.2:c.209-4749… XM_017022696.2:c.209-4749G>T |
N/A | Intron Variant |
| HERC2 transcript variant X2 |
XM_047433206.1:c.296-4749… XM_047433206.1:c.296-4749G>T |
N/A | Intron Variant |
| HERC2 transcript variant X8 |
XM_047433208.1:c.323-4749… XM_047433208.1:c.323-4749G>T |
N/A | Intron Variant |
| HERC2 transcript variant X9 |
XM_047433209.1:c.323-4749… XM_047433209.1:c.323-4749G>T |
N/A | Intron Variant |
| HERC2 transcript variant X10 | XM_017022697.2:c. | N/A | Genic Upstream Transcript Variant |
| HERC2 transcript variant X11 | XM_017022698.2:c. | N/A | Genic Upstream Transcript Variant |
| HERC2 transcript variant X7 | XM_047433207.1:c. | N/A | Genic Upstream Transcript 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: T (allele ID:
19782
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000005009.5 | Skin/hair/eye pigmentation, variation in, 1 | Association |
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 15 | NC_000015.10:g.28285036= | NC_000015.10:g.28285036C>A | NC_000015.10:g.28285036C>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.28530182= | NC_000015.9:g.28530182C>A | NC_000015.9:g.28530182C>T |
| HERC2 RefSeqGene | NG_016355.1:g.42114= | NG_016355.1:g.42114G>T | NG_016355.1:g.42114G>A |
| GRCh38.p14 chr 15 fix patch HG2139_PATCH | NW_011332701.1:g.418481T>C | NW_011332701.1:g.418481T>A | NW_011332701.1:g.418481= |
| GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 | NT_187660.1:g.532267T>C | NT_187660.1:g.532267T>A | NT_187660.1:g.532267= |
| HERC2 transcript | NM_004667.5:c.323-4749= | NM_004667.5:c.323-4749G>T | NM_004667.5:c.323-4749G>A |
| HERC2 transcript | NM_004667.6:c.323-4749= | NM_004667.6:c.323-4749G>T | NM_004667.6:c.323-4749G>A |
| HERC2 transcript variant X1 | XM_005268275.1:c.323-4749= | XM_005268275.1:c.323-4749G>T | XM_005268275.1:c.323-4749G>A |
| HERC2 transcript variant X2 | XM_005268276.1:c.209-4749= | XM_005268276.1:c.209-4749G>T | XM_005268276.1:c.209-4749G>A |
| HERC2 transcript variant X5 | XM_005268276.6:c.209-4749= | XM_005268276.6:c.209-4749G>T | XM_005268276.6:c.209-4749G>A |
| HERC2 transcript variant X3 | XM_005268277.1:c.209-4749= | XM_005268277.1:c.209-4749G>T | XM_005268277.1:c.209-4749G>A |
| HERC2 transcript variant X4 | XM_005268278.1:c.323-4749= | XM_005268278.1:c.323-4749G>T | XM_005268278.1:c.323-4749G>A |
| HERC2 transcript variant X1 | XM_006720726.4:c.323-4749= | XM_006720726.4:c.323-4749G>T | XM_006720726.4:c.323-4749G>A |
| HERC2 transcript variant X6 | XM_006720727.4:c.323-4749= | XM_006720727.4:c.323-4749G>T | XM_006720727.4:c.323-4749G>A |
| HERC2 transcript variant X3 | XM_017022695.1:c.209-4749= | XM_017022695.1:c.209-4749G>T | XM_017022695.1:c.209-4749G>A |
| HERC2 transcript variant X4 | XM_017022696.2:c.209-4749= | XM_017022696.2:c.209-4749G>T | XM_017022696.2:c.209-4749G>A |
| HERC2 transcript variant X2 | XM_047433206.1:c.296-4749= | XM_047433206.1:c.296-4749G>T | XM_047433206.1:c.296-4749G>A |
| HERC2 transcript variant X8 | XM_047433208.1:c.323-4749= | XM_047433208.1:c.323-4749G>T | XM_047433208.1:c.323-4749G>A |
| HERC2 transcript variant X9 | XM_047433209.1:c.323-4749= | XM_047433209.1:c.323-4749G>T | XM_047433209.1:c.323-4749G>A |
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#.
145 SubSNP,
21 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss2493439 | Nov 09, 2000 (89) |
| 2 | SSAHASNP | ss21262991 | Apr 05, 2004 (121) |
| 3 | ABI | ss40534750 | Mar 13, 2006 (126) |
| 4 | ILLUMINA | ss66831117 | Dec 01, 2006 (127) |
| 5 | ILLUMINA | ss67145528 | Dec 01, 2006 (127) |
| 6 | ILLUMINA | ss67487245 | Dec 01, 2006 (127) |
| 7 | PERLEGEN | ss69171501 | May 18, 2007 (127) |
| 8 | ILLUMINA | ss70447661 | May 18, 2007 (127) |
| 9 | ILLUMINA | ss70638736 | May 25, 2008 (130) |
| 10 | ILLUMINA | ss71189767 | May 18, 2007 (127) |
| 11 | ILLUMINA | ss75886860 | Dec 06, 2007 (129) |
| 12 | KRIBB_YJKIM | ss83858907 | Dec 15, 2007 (130) |
| 13 | BCMHGSC_JDW | ss90104113 | Mar 24, 2008 (129) |
| 14 | HUMANGENOME_JCVI | ss96746400 | Feb 05, 2009 (130) |
| 15 | BGI | ss103224383 | Dec 01, 2009 (131) |
| 16 | 1000GENOMES | ss108696694 | Jan 23, 2009 (130) |
| 17 | ILLUMINA | ss121772795 | Dec 01, 2009 (131) |
| 18 | ENSEMBL | ss136931692 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss153547499 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss159291394 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss160382025 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss170704821 | Jul 04, 2010 (132) |
| 23 | ILLUMINA | ss172613222 | Jul 04, 2010 (132) |
| 24 | BCM-HGSC-SUB | ss207156077 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss226813753 | Jul 14, 2010 (132) |
| 26 | 1000GENOMES | ss236722894 | Jul 15, 2010 (132) |
| 27 | 1000GENOMES | ss243120816 | Jul 15, 2010 (132) |
| 28 | GMI | ss282193312 | May 04, 2012 (137) |
| 29 | GMI | ss286924812 | Apr 25, 2013 (138) |
| 30 | PJP | ss291808428 | May 09, 2011 (134) |
| 31 | ILLUMINA | ss410908960 | Sep 17, 2011 (135) |
| 32 | ILLUMINA | ss480062333 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss480071052 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss480745335 | Sep 08, 2015 (146) |
| 35 | ILLUMINA | ss484829059 | May 04, 2012 (137) |
| 36 | EXOME_CHIP | ss491491456 | May 04, 2012 (137) |
| 37 | ILLUMINA | ss536904980 | Sep 08, 2015 (146) |
| 38 | TISHKOFF | ss564384359 | Apr 25, 2013 (138) |
| 39 | SSMP | ss660096472 | Apr 25, 2013 (138) |
| 40 | ILLUMINA | ss778816195 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss780682209 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss782861105 | Aug 21, 2014 (142) |
| 43 | ILLUMINA | ss783355552 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss783825433 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss825416394 | Jul 19, 2016 (147) |
| 46 | ILLUMINA | ss832115128 | Apr 01, 2015 (144) |
| 47 | ILLUMINA | ss832803503 | Aug 21, 2014 (142) |
| 48 | ILLUMINA | ss833394333 | Aug 21, 2014 (142) |
| 49 | ILLUMINA | ss834276502 | Sep 08, 2015 (146) |
| 50 | EVA-GONL | ss991625436 | Aug 21, 2014 (142) |
| 51 | JMKIDD_LAB | ss1080004263 | Aug 21, 2014 (142) |
| 52 | 1000GENOMES | ss1352827675 | Aug 21, 2014 (142) |
| 53 | HAMMER_LAB | ss1397692518 | Sep 08, 2015 (146) |
| 54 | DDI | ss1427576175 | Apr 01, 2015 (144) |
| 55 | OMIM-CURATED-RECORDS | ss1505810803 | Dec 08, 2014 (142) |
| 56 | EVA_GENOME_DK | ss1577523254 | Apr 01, 2015 (144) |
| 57 | EVA_UK10K_ALSPAC | ss1632673531 | Apr 01, 2015 (144) |
| 58 | EVA_UK10K_TWINSUK | ss1675667564 | Apr 01, 2015 (144) |
| 59 | EVA_DECODE | ss1695637239 | Apr 01, 2015 (144) |
| 60 | EVA_SVP | ss1713477725 | Apr 01, 2015 (144) |
| 61 | ILLUMINA | ss1752154535 | Sep 08, 2015 (146) |
| 62 | ILLUMINA | ss1752154536 | Sep 08, 2015 (146) |
| 63 | ILLUMINA | ss1917893760 | Feb 12, 2016 (147) |
| 64 | WEILL_CORNELL_DGM | ss1935023014 | Feb 12, 2016 (147) |
| 65 | ILLUMINA | ss1946388565 | Feb 12, 2016 (147) |
| 66 | ILLUMINA | ss1959597666 | Feb 12, 2016 (147) |
| 67 | GENOMED | ss1968070905 | Jul 19, 2016 (147) |
| 68 | JJLAB | ss2028291460 | Sep 14, 2016 (149) |
| 69 | ILLUMINA | ss2094797606 | Dec 20, 2016 (150) |
| 70 | ILLUMINA | ss2095057524 | Dec 20, 2016 (150) |
| 71 | USC_VALOUEV | ss2156688545 | Dec 20, 2016 (150) |
| 72 | SYSTEMSBIOZJU | ss2628638998 | Nov 08, 2017 (151) |
| 73 | ILLUMINA | ss2633208829 | Nov 08, 2017 (151) |
| 74 | ILLUMINA | ss2633208830 | Nov 08, 2017 (151) |
| 75 | ILLUMINA | ss2633208831 | Nov 08, 2017 (151) |
| 76 | ILLUMINA | ss2635056534 | Nov 08, 2017 (151) |
| 77 | GRF | ss2701147811 | Nov 08, 2017 (151) |
| 78 | AFFY | ss2985035159 | Nov 08, 2017 (151) |
| 79 | AFFY | ss2985667545 | Nov 08, 2017 (151) |
| 80 | SWEGEN | ss3013008343 | Nov 08, 2017 (151) |
| 81 | ILLUMINA | ss3021616434 | Nov 08, 2017 (151) |
| 82 | BIOINF_KMB_FNS_UNIBA | ss3027969935 | Nov 08, 2017 (151) |
| 83 | CSHL | ss3351042335 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss3627323681 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3627323682 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3631203144 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3633091670 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3633796023 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3634598049 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3634598050 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3635485095 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3636288512 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3637236326 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3638076004 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3639051398 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3639530795 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3640305376 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3640305377 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3641057898 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3641353161 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3643060713 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3644641687 | Oct 12, 2018 (152) |
| 103 | URBANLAB | ss3650317321 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3652015781 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3652015782 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3653806888 | Oct 12, 2018 (152) |
| 107 | EVA_DECODE | ss3697586976 | Jul 13, 2019 (153) |
| 108 | ILLUMINA | ss3725484899 | Jul 13, 2019 (153) |
| 109 | ACPOP | ss3740788094 | Jul 13, 2019 (153) |
| 110 | ILLUMINA | ss3744417260 | Jul 13, 2019 (153) |
| 111 | ILLUMINA | ss3744898614 | Jul 13, 2019 (153) |
| 112 | ILLUMINA | ss3744898615 | Jul 13, 2019 (153) |
| 113 | EVA | ss3752892957 | Jul 13, 2019 (153) |
| 114 | ILLUMINA | ss3772397329 | Jul 13, 2019 (153) |
| 115 | ILLUMINA | ss3772397330 | Jul 13, 2019 (153) |
| 116 | PACBIO | ss3787801318 | Jul 13, 2019 (153) |
| 117 | PACBIO | ss3792820484 | Jul 13, 2019 (153) |
| 118 | PACBIO | ss3797704950 | Jul 13, 2019 (153) |
| 119 | KHV_HUMAN_GENOMES | ss3818210059 | Jul 13, 2019 (153) |
| 120 | EVA | ss3834157176 | Apr 27, 2020 (154) |
| 121 | EVA | ss3840675282 | Apr 27, 2020 (154) |
| 122 | EVA | ss3846164071 | Apr 27, 2020 (154) |
| 123 | HGDP | ss3847518240 | Apr 27, 2020 (154) |
| 124 | SGDP_PRJ | ss3882555415 | Apr 27, 2020 (154) |
| 125 | KRGDB | ss3931680050 | Apr 27, 2020 (154) |
| 126 | EVA | ss3984698674 | Apr 26, 2021 (155) |
| 127 | EVA | ss3985707154 | Apr 26, 2021 (155) |
| 128 | VINODS | ss4031999572 | Apr 26, 2021 (155) |
| 129 | TOPMED | ss4985775751 | Apr 26, 2021 (155) |
| 130 | TOMMO_GENOMICS | ss5215412675 | Apr 26, 2021 (155) |
| 131 | 1000G_HIGH_COVERAGE | ss5297866238 | Oct 16, 2022 (156) |
| 132 | EVA | ss5315771944 | Oct 16, 2022 (156) |
| 133 | HUGCELL_USP | ss5491680897 | Oct 16, 2022 (156) |
| 134 | 1000G_HIGH_COVERAGE | ss5598980376 | Oct 16, 2022 (156) |
| 135 | SANFORD_IMAGENETICS | ss5624356256 | Oct 16, 2022 (156) |
| 136 | SANFORD_IMAGENETICS | ss5657178697 | Oct 16, 2022 (156) |
| 137 | TOMMO_GENOMICS | ss5768990432 | Oct 16, 2022 (156) |
| 138 | EVA | ss5799933057 | Oct 16, 2022 (156) |
| 139 | YY_MCH | ss5815189614 | Oct 16, 2022 (156) |
| 140 | EVA | ss5827985193 | Oct 16, 2022 (156) |
| 141 | EVA | ss5847445876 | Oct 16, 2022 (156) |
| 142 | EVA | ss5851228143 | Oct 16, 2022 (156) |
| 143 | EVA | ss5875255779 | Oct 16, 2022 (156) |
| 144 | EVA | ss5948588830 | Oct 16, 2022 (156) |
| 145 | EVA | ss5979455572 | Oct 16, 2022 (156) |
| 146 | 1000Genomes | NC_000015.9 - 28530182 | Oct 12, 2018 (152) |
| 147 | 1000Genomes_30x | NC_000015.10 - 28285036 | Oct 16, 2022 (156) |
| 148 | The Avon Longitudinal Study of Parents and Children | NC_000015.9 - 28530182 | Oct 12, 2018 (152) |
| 149 | Genome-wide autozygosity in Daghestan | NC_000015.8 - 26203777 | Apr 27, 2020 (154) |
| 150 | The Danish reference pan genome | NC_000015.9 - 28530182 | Apr 27, 2020 (154) |
| 151 | gnomAD - Genomes | NC_000015.10 - 28285036 | Apr 26, 2021 (155) |
| 152 | Genome of the Netherlands Release 5 | NC_000015.9 - 28530182 | Apr 27, 2020 (154) |
| 153 | HGDP-CEPH-db Supplement 1 | NC_000015.8 - 26203777 | Apr 27, 2020 (154) |
| 154 | HapMap | NC_000015.10 - 28285036 | Apr 27, 2020 (154) |
| 155 | KOREAN population from KRGDB | NC_000015.9 - 28530182 | Apr 27, 2020 (154) |
| 156 | Northern Sweden | NC_000015.9 - 28530182 | Jul 13, 2019 (153) |
| 157 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000015.9 - 28530182 | Apr 26, 2021 (155) |
| 158 | CNV burdens in cranial meningiomas | NC_000015.9 - 28530182 | Apr 26, 2021 (155) |
| 159 | Qatari | NC_000015.9 - 28530182 | Apr 27, 2020 (154) |
| 160 | SGDP_PRJ | NC_000015.9 - 28530182 | Apr 27, 2020 (154) |
| 161 | Siberian | NC_000015.9 - 28530182 | Apr 27, 2020 (154) |
| 162 | 8.3KJPN | NC_000015.9 - 28530182 | Apr 26, 2021 (155) |
| 163 | 14KJPN | NC_000015.10 - 28285036 | Oct 16, 2022 (156) |
| 164 | TopMed | NC_000015.10 - 28285036 | Apr 26, 2021 (155) |
| 165 | UK 10K study - Twins | NC_000015.9 - 28530182 | Oct 12, 2018 (152) |
| 166 | ALFA | NC_000015.10 - 28285036 | Apr 26, 2021 (155) |
| 167 | ClinVar | RCV000005009.5 | Oct 16, 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) |
|---|---|
| rs58956823 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 15487698617 | NC_000015.10:28285035:C:A | NC_000015.10:28285035:C:A | (self) |
| 162740, 196132, ss90104113, ss108696694, ss207156077, ss282193312, ss286924812, ss291808428, ss410908960, ss480062333, ss825416394, ss1397692518, ss1695637239, ss1713477725, ss2635056534, ss3639051398, ss3639530795, ss3643060713, ss3847518240 | NC_000015.8:26203776:C:T | NC_000015.10:28285035:C:T | (self) |
| 65875053, 36577869, 3792899, 16339318, 38857444, 14072959, 933081, 248195, 17064944, 34572395, 9204899, 73381982, 36577869, ss226813753, ss236722894, ss243120816, ss480071052, ss480745335, ss484829059, ss491491456, ss536904980, ss564384359, ss660096472, ss778816195, ss780682209, ss782861105, ss783355552, ss783825433, ss832115128, ss832803503, ss833394333, ss834276502, ss991625436, ss1080004263, ss1352827675, ss1427576175, ss1577523254, ss1632673531, ss1675667564, ss1752154535, ss1752154536, ss1917893760, ss1935023014, ss1946388565, ss1959597666, ss1968070905, ss2028291460, ss2094797606, ss2095057524, ss2156688545, ss2628638998, ss2633208829, ss2633208830, ss2633208831, ss2701147811, ss2985035159, ss2985667545, ss3013008343, ss3021616434, ss3351042335, ss3627323681, ss3627323682, ss3631203144, ss3633091670, ss3633796023, ss3634598049, ss3634598050, ss3635485095, ss3636288512, ss3637236326, ss3638076004, ss3640305376, ss3640305377, ss3641057898, ss3641353161, ss3644641687, ss3652015781, ss3652015782, ss3653806888, ss3740788094, ss3744417260, ss3744898614, ss3744898615, ss3752892957, ss3772397329, ss3772397330, ss3787801318, ss3792820484, ss3797704950, ss3834157176, ss3840675282, ss3882555415, ss3931680050, ss3984698674, ss3985707154, ss5215412675, ss5315771944, ss5624356256, ss5657178697, ss5799933057, ss5827985193, ss5847445876, ss5948588830, ss5979455572 | NC_000015.9:28530181:C:T | NC_000015.10:28285035:C:T | (self) |
| RCV000005009.5, 86506311, 464323279, 1232790, 102827536, 201321411, 15487698617, ss1505810803, ss3027969935, ss3650317321, ss3697586976, ss3725484899, ss3818210059, ss3846164071, ss4985775751, ss5297866238, ss5491680897, ss5598980376, ss5768990432, ss5815189614, ss5851228143, ss5875255779 | NC_000015.10:28285035:C:T | NC_000015.10:28285035:C:T | (self) |
| ss21262991 | NT_010280.16:895672:C:T | NC_000015.10:28285035:C:T | (self) |
| ss2493439, ss40534750, ss66831117, ss67145528, ss67487245, ss69171501, ss70447661, ss70638736, ss71189767, ss75886860, ss83858907, ss96746400, ss103224383, ss121772795, ss136931692, ss153547499, ss159291394, ss160382025, ss170704821, ss172613222 | NT_026446.14:4965328:C:T | NC_000015.10:28285035:C:T | (self) |
| ss4031999572 | NT_187660.1:532266:T:T | NC_000015.10:28285035: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.
12
citations for rs1667394
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 17952075 | Genetic determinants of hair, eye and skin pigmentation in Europeans. | Sulem P et al. | 2007 | Nature genetics |
| 18252221 | Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. | Kayser M et al. | 2008 | American journal of human genetics |
| 18252222 | A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. | Sturm RA et al. | 2008 | American journal of human genetics |
| 18483556 | A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. | Han J et al. | 2008 | PLoS genetics |
| 19863770 | Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies. | Udayakumar D et al. | 2009 | Genome medicine |
| 20546537 | Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. | Gerstenblith MR et al. | 2010 | Pigment cell & melanoma research |
| 20585627 | Web-based, participant-driven studies yield novel genetic associations for common traits. | Eriksson N et al. | 2010 | PLoS genetics |
| 20876667 | Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. | Panagiotou OA et al. | 2010 | American journal of epidemiology |
| 21533023 | Adaptations to climate-mediated selective pressures in humans. | Hancock AM et al. | 2011 | PLoS genetics |
| 22065085 | A global view of the OCA2-HERC2 region and pigmentation. | Donnelly MP et al. | 2012 | Human genetics |
| 23118974 | Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. | Candille SI et al. | 2012 | PloS one |
| 27499155 | Genetic markers of pigmentation are novel risk loci for uveal melanoma. | Ferguson R et al. | 2016 | Scientific reports |
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.