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.
rs1393350
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:89277878 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.239413 (82928/346380, ALFA)A=0.163663 (43320/264690, TOPMED)A=0.172638 (24075/139454, GnomAD) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- TYR : Intron Variant
- Publications
- 35 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 | 346596 | G=0.760557 | A=0.239443 |
| European | Sub | 298326 | G=0.739148 | A=0.260852 |
| African | Sub | 8708 | G=0.9482 | A=0.0518 |
| African Others | Sub | 330 | G=0.985 | A=0.015 |
| African American | Sub | 8378 | G=0.9468 | A=0.0532 |
| Asian | Sub | 6972 | G=0.9987 | A=0.0013 |
| East Asian | Sub | 5002 | G=0.9990 | A=0.0010 |
| Other Asian | Sub | 1970 | G=0.9980 | A=0.0020 |
| Latin American 1 | Sub | 1278 | G=0.8091 | A=0.1909 |
| Latin American 2 | Sub | 9324 | G=0.8870 | A=0.1130 |
| South Asian | Sub | 5234 | G=0.9326 | A=0.0674 |
| Other | Sub | 16754 | G=0.81736 | A=0.18264 |
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 | 346380 | G=0.760587 | A=0.239413 |
| Allele Frequency Aggregator | European | Sub | 298146 | G=0.739181 | A=0.260819 |
| Allele Frequency Aggregator | Other | Sub | 16732 | G=0.81742 | A=0.18258 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 9324 | G=0.8870 | A=0.1130 |
| Allele Frequency Aggregator | African | Sub | 8694 | G=0.9481 | A=0.0519 |
| Allele Frequency Aggregator | Asian | Sub | 6972 | G=0.9987 | A=0.0013 |
| Allele Frequency Aggregator | South Asian | Sub | 5234 | G=0.9326 | A=0.0674 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1278 | G=0.8091 | A=0.1909 |
| TopMed | Global | Study-wide | 264690 | G=0.836337 | A=0.163663 |
| gnomAD - Genomes | Global | Study-wide | 139454 | G=0.827362 | A=0.172638 |
| gnomAD - Genomes | European | Sub | 75518 | G=0.75132 | A=0.24868 |
| gnomAD - Genomes | African | Sub | 41884 | G=0.95129 | A=0.04871 |
| gnomAD - Genomes | American | Sub | 13526 | G=0.84349 | A=0.15651 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3310 | G=0.7707 | A=0.2293 |
| gnomAD - Genomes | East Asian | Sub | 3066 | G=0.9987 | A=0.0013 |
| gnomAD - Genomes | Other | Sub | 2150 | G=0.8256 | A=0.1744 |
| The PAGE Study | Global | Study-wide | 78696 | G=0.91928 | A=0.08072 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | G=0.94600 | A=0.05400 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.89343 | A=0.10657 |
| The PAGE Study | Asian | Sub | 8318 | G=0.9975 | A=0.0025 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.8435 | A=0.1565 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | G=0.9358 | A=0.0642 |
| The PAGE Study | Cuban | Sub | 4228 | G=0.8427 | A=0.1573 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.8775 | A=0.1225 |
| The PAGE Study | CentralAmerican | Sub | 2448 | G=0.8832 | A=0.1168 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.8976 | A=0.1024 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.8206 | A=0.1794 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.949 | A=0.051 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.99996 | A=0.00004 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.9211 | A=0.0789 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9922 | A=0.0078 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.7583 | A=0.2417 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.9468 | A=0.0532 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.9966 | A=0.0034 |
| 1000Genomes_30x | American | Sub | 980 | G=0.881 | A=0.119 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9207 | A=0.0793 |
| 1000Genomes | African | Sub | 1322 | G=0.9917 | A=0.0083 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9970 | A=0.0030 |
| 1000Genomes | Europe | Sub | 1006 | G=0.7565 | A=0.2435 |
| 1000Genomes | South Asian | Sub | 978 | G=0.946 | A=0.054 |
| 1000Genomes | American | Sub | 694 | G=0.878 | A=0.122 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.7247 | A=0.2753 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.7300 | A=0.2700 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.9990 | A=0.0010 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | G=0.9117 | A=0.0883 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.991 | A=0.009 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.932 | A=0.068 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.811 | A=0.189 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.731 | A=0.269 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=1.000 | A=0.000 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=1.000 | A=0.000 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=1.00 | A=0.00 |
| HapMap | Global | Study-wide | 1442 | G=0.9022 | A=0.0978 |
| HapMap | American | Sub | 770 | G=0.878 | A=0.122 |
| HapMap | African | Sub | 406 | G=0.993 | A=0.007 |
| HapMap | Europe | Sub | 176 | G=0.750 | A=0.250 |
| HapMap | Asian | Sub | 90 | G=1.00 | A=0.00 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | G=0.7843 | A=0.2157 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | G=0.737 | A=0.263 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=0.757 | A=0.243 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | G=0.877 | A=0.123 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=0.769 | A=0.231 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | G=1.00 | A=0.00 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | G=0.86 | A=0.14 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.764 | A=0.236 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.992 | A=0.008 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.992 | A=0.008 |
| Chileans | Chilean | Study-wide | 626 | G=0.859 | A=0.141 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.768 | A=0.232 |
| Qatari | Global | Study-wide | 216 | G=0.926 | A=0.074 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | G=0.991 | A=0.009 |
| SGDP_PRJ | Global | Study-wide | 86 | G=0.48 | A=0.52 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 84 | G=0.81 | A=0.19 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.70 | A=0.30 |
| Siberian | Global | Study-wide | 12 | G=0.42 | A=0.58 |
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 11 | NC_000011.10:g.89277878G>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.89011046G>A |
| TYR RefSeqGene | NG_008748.1:g.105007G>A |
Gene: TYR, tyrosinase
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TYR transcript | NM_000372.5:c.1185-6895G>A | N/A | Intron Variant |
| TYR transcript variant X1 |
XM_011542970.3:c.1185-689… XM_011542970.3:c.1185-6895G>A |
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.
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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.89277878= | NC_000011.10:g.89277878G>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.89011046= | NC_000011.9:g.89011046G>A |
| TYR RefSeqGene | NG_008748.1:g.105007= | NG_008748.1:g.105007G>A |
| TYR transcript | NM_000372.4:c.1185-6895= | NM_000372.4:c.1185-6895G>A |
| TYR transcript | NM_000372.5:c.1185-6895= | NM_000372.5:c.1185-6895G>A |
| TYR transcript variant X1 | XM_011542970.3:c.1185-6895= | XM_011542970.3:c.1185-6895G>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#.
133 SubSNP,
23 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss2188074 | Oct 23, 2000 (88) |
| 2 | SC_JCM | ss6051628 | Feb 20, 2003 (111) |
| 3 | SNP500CANCER | ss6903972 | Jul 02, 2003 (116) |
| 4 | PERLEGEN | ss24409580 | Sep 20, 2004 (123) |
| 5 | ABI | ss39990330 | Mar 14, 2006 (126) |
| 6 | ILLUMINA | ss66606787 | Nov 29, 2006 (127) |
| 7 | ILLUMINA | ss67093957 | Nov 29, 2006 (127) |
| 8 | ILLUMINA | ss67428305 | Nov 29, 2006 (127) |
| 9 | PERLEGEN | ss69323992 | May 16, 2007 (127) |
| 10 | ILLUMINA | ss70428881 | May 16, 2007 (127) |
| 11 | ILLUMINA | ss70612753 | May 23, 2008 (130) |
| 12 | ILLUMINA | ss71160375 | May 16, 2007 (127) |
| 13 | ILLUMINA | ss75813292 | Dec 06, 2007 (129) |
| 14 | AFFY | ss76457012 | Dec 06, 2007 (129) |
| 15 | KRIBB_YJKIM | ss83752648 | Dec 14, 2007 (130) |
| 16 | HUMANGENOME_JCVI | ss97497128 | Feb 03, 2009 (130) |
| 17 | 1000GENOMES | ss110816692 | Jan 25, 2009 (130) |
| 18 | ILLUMINA | ss121675793 | Dec 01, 2009 (131) |
| 19 | ENSEMBL | ss144351225 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss153410544 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss159264418 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss160346668 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss170455467 | Jul 04, 2010 (132) |
| 24 | ILLUMINA | ss172467745 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss235654928 | Jul 15, 2010 (132) |
| 26 | BL | ss255326067 | May 09, 2011 (134) |
| 27 | GMI | ss286425984 | Apr 25, 2013 (138) |
| 28 | ILLUMINA | ss410906098 | Sep 17, 2011 (135) |
| 29 | PAGE_STUDY | ss469414455 | May 04, 2012 (137) |
| 30 | PAGE_STUDY | ss469415258 | May 04, 2012 (137) |
| 31 | ILLUMINA | ss479954508 | May 04, 2012 (137) |
| 32 | ILLUMINA | ss479962899 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss480604651 | Sep 08, 2015 (146) |
| 34 | ILLUMINA | ss484775499 | May 04, 2012 (137) |
| 35 | EXOME_CHIP | ss491457251 | May 04, 2012 (137) |
| 36 | ILLUMINA | ss536863846 | Sep 08, 2015 (146) |
| 37 | SSMP | ss658239473 | Apr 25, 2013 (138) |
| 38 | ILLUMINA | ss778804590 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss780681887 | Aug 21, 2014 (142) |
| 40 | ILLUMINA | ss782834430 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss783355219 | Aug 21, 2014 (142) |
| 42 | ILLUMINA | ss783799179 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss825398155 | Jul 19, 2016 (147) |
| 44 | ILLUMINA | ss832087996 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss832776621 | Jul 13, 2019 (153) |
| 46 | ILLUMINA | ss834264788 | Sep 08, 2015 (146) |
| 47 | EVA-GONL | ss988793964 | Aug 21, 2014 (142) |
| 48 | JMKIDD_LAB | ss1077919488 | Aug 21, 2014 (142) |
| 49 | 1000GENOMES | ss1342329406 | Aug 21, 2014 (142) |
| 50 | HAMMER_LAB | ss1397612468 | Sep 08, 2015 (146) |
| 51 | DDI | ss1426708608 | Apr 01, 2015 (144) |
| 52 | EVA_GENOME_DK | ss1575854311 | Apr 01, 2015 (144) |
| 53 | EVA_DECODE | ss1598457081 | Apr 01, 2015 (144) |
| 54 | EVA_UK10K_ALSPAC | ss1627130673 | Apr 01, 2015 (144) |
| 55 | EVA_UK10K_TWINSUK | ss1670124706 | Apr 01, 2015 (144) |
| 56 | EVA_SVP | ss1713272653 | Apr 01, 2015 (144) |
| 57 | ILLUMINA | ss1752037673 | Sep 08, 2015 (146) |
| 58 | ILLUMINA | ss1752037674 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss1917864816 | Feb 12, 2016 (147) |
| 60 | WEILL_CORNELL_DGM | ss1932153205 | Feb 12, 2016 (147) |
| 61 | ILLUMINA | ss1946318727 | Feb 12, 2016 (147) |
| 62 | ILLUMINA | ss1959373721 | Feb 12, 2016 (147) |
| 63 | JJLAB | ss2026819417 | Sep 14, 2016 (149) |
| 64 | ILLUMINA | ss2094791557 | Dec 20, 2016 (150) |
| 65 | ILLUMINA | ss2095025032 | Dec 20, 2016 (150) |
| 66 | USC_VALOUEV | ss2155131290 | Dec 20, 2016 (150) |
| 67 | ILLUMINA | ss2632864488 | Nov 08, 2017 (151) |
| 68 | ILLUMINA | ss2632864489 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss2635028891 | Nov 08, 2017 (151) |
| 70 | ILLUMINA | ss2710742178 | Nov 08, 2017 (151) |
| 71 | GNOMAD | ss2902656854 | Nov 08, 2017 (151) |
| 72 | AFFY | ss2984952702 | Nov 08, 2017 (151) |
| 73 | AFFY | ss2985595467 | Nov 08, 2017 (151) |
| 74 | SWEGEN | ss3008520841 | Nov 08, 2017 (151) |
| 75 | ILLUMINA | ss3021362309 | Nov 08, 2017 (151) |
| 76 | BIOINF_KMB_FNS_UNIBA | ss3027207210 | Nov 08, 2017 (151) |
| 77 | CSHL | ss3349717808 | Nov 08, 2017 (151) |
| 78 | ILLUMINA | ss3625606525 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3626713826 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3626713827 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3630879740 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3632993979 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3633693732 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3634468185 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3634468186 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3635385142 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3636151797 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3637136036 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3637921810 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3638974582 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3639488370 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3640175524 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3640175525 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3642918949 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3644571572 | Oct 12, 2018 (152) |
| 96 | URBANLAB | ss3649665510 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3651728800 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3651728801 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3653725045 | Oct 12, 2018 (152) |
| 100 | EVA_DECODE | ss3692296910 | Jul 13, 2019 (153) |
| 101 | ILLUMINA | ss3725263838 | Jul 13, 2019 (153) |
| 102 | ACPOP | ss3738400383 | Jul 13, 2019 (153) |
| 103 | ILLUMINA | ss3744385770 | Jul 13, 2019 (153) |
| 104 | ILLUMINA | ss3744769005 | Jul 13, 2019 (153) |
| 105 | ILLUMINA | ss3744769006 | Jul 13, 2019 (153) |
| 106 | EVA | ss3749617123 | Jul 13, 2019 (153) |
| 107 | PAGE_CC | ss3771642675 | Jul 13, 2019 (153) |
| 108 | ILLUMINA | ss3772268803 | Jul 13, 2019 (153) |
| 109 | ILLUMINA | ss3772268804 | Jul 13, 2019 (153) |
| 110 | KHV_HUMAN_GENOMES | ss3814948950 | Jul 13, 2019 (153) |
| 111 | EVA | ss3832756604 | Apr 26, 2020 (154) |
| 112 | EVA | ss3839936530 | Apr 26, 2020 (154) |
| 113 | EVA | ss3845417282 | Apr 26, 2020 (154) |
| 114 | HGDP | ss3847426050 | Apr 26, 2020 (154) |
| 115 | SGDP_PRJ | ss3876802451 | Apr 26, 2020 (154) |
| 116 | KRGDB | ss3925231237 | Apr 26, 2020 (154) |
| 117 | EVA | ss3984654697 | Apr 26, 2021 (155) |
| 118 | EVA | ss3985547792 | Apr 26, 2021 (155) |
| 119 | EVA | ss4017550920 | Apr 26, 2021 (155) |
| 120 | TOPMED | ss4894427114 | Apr 26, 2021 (155) |
| 121 | EVA | ss5237498576 | Apr 26, 2021 (155) |
| 122 | 1000G_HIGH_COVERAGE | ss5288346747 | Oct 16, 2022 (156) |
| 123 | EVA | ss5401236687 | Oct 16, 2022 (156) |
| 124 | HUGCELL_USP | ss5483404922 | Oct 16, 2022 (156) |
| 125 | 1000G_HIGH_COVERAGE | ss5584533097 | Oct 16, 2022 (156) |
| 126 | SANFORD_IMAGENETICS | ss5624281337 | Oct 16, 2022 (156) |
| 127 | SANFORD_IMAGENETICS | ss5651748321 | Oct 16, 2022 (156) |
| 128 | TOMMO_GENOMICS | ss5751429915 | Oct 16, 2022 (156) |
| 129 | EVA | ss5837012821 | Oct 16, 2022 (156) |
| 130 | EVA | ss5847395169 | Oct 16, 2022 (156) |
| 131 | EVA | ss5921024235 | Oct 16, 2022 (156) |
| 132 | EVA | ss5943070496 | Oct 16, 2022 (156) |
| 133 | EVA | ss5979366827 | Oct 16, 2022 (156) |
| 134 | 1000Genomes | NC_000011.9 - 89011046 | Oct 12, 2018 (152) |
| 135 | 1000Genomes_30x | NC_000011.10 - 89277878 | Oct 16, 2022 (156) |
| 136 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 89011046 | Oct 12, 2018 (152) |
| 137 | Chileans | NC_000011.9 - 89011046 | Apr 26, 2020 (154) |
| 138 | Genome-wide autozygosity in Daghestan | NC_000011.8 - 88650694 | Apr 26, 2020 (154) |
| 139 | The Danish reference pan genome | NC_000011.9 - 89011046 | Apr 26, 2020 (154) |
| 140 | gnomAD - Genomes | NC_000011.10 - 89277878 | Apr 26, 2021 (155) |
| 141 | Genome of the Netherlands Release 5 | NC_000011.9 - 89011046 | Apr 26, 2020 (154) |
| 142 | HGDP-CEPH-db Supplement 1 | NC_000011.8 - 88650694 | Apr 26, 2020 (154) |
| 143 | HapMap | NC_000011.10 - 89277878 | Apr 26, 2020 (154) |
| 144 | KOREAN population from KRGDB | NC_000011.9 - 89011046 | Apr 26, 2020 (154) |
| 145 | Northern Sweden | NC_000011.9 - 89011046 | Jul 13, 2019 (153) |
| 146 | The PAGE Study | NC_000011.10 - 89277878 | Jul 13, 2019 (153) |
| 147 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000011.9 - 89011046 | Apr 26, 2021 (155) |
| 148 | CNV burdens in cranial meningiomas | NC_000011.9 - 89011046 | Apr 26, 2021 (155) |
| 149 | Qatari | NC_000011.9 - 89011046 | Apr 26, 2020 (154) |
| 150 | SGDP_PRJ | NC_000011.9 - 89011046 | Apr 26, 2020 (154) |
| 151 | Siberian | NC_000011.9 - 89011046 | Apr 26, 2020 (154) |
| 152 | 14KJPN | NC_000011.10 - 89277878 | Oct 16, 2022 (156) |
| 153 | TopMed | NC_000011.10 - 89277878 | Apr 26, 2021 (155) |
| 154 | UK 10K study - Twins | NC_000011.9 - 89011046 | Oct 12, 2018 (152) |
| 155 | A Vietnamese Genetic Variation Database | NC_000011.9 - 89011046 | Jul 13, 2019 (153) |
| 156 | ALFA | NC_000011.10 - 89277878 | 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) |
|---|---|
| rs17800907 | Oct 08, 2004 (123) |
| rs56750720 | May 23, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 83621, 103942, ss76457012, ss110816692, ss255326067, ss286425984, ss479954508, ss825398155, ss1397612468, ss1598457081, ss1713272653, ss2635028891, ss3638974582, ss3639488370, ss3642918949, ss3847426050 | NC_000011.8:88650693:G:A | NC_000011.10:89277877:G:A | (self) |
| 54887874, 30467360, 81062, 2667643, 13594785, 32408631, 11685248, 773719, 204179, 14195135, 28819431, 7647644, 30467360, 6757228, ss235654928, ss479962899, ss480604651, ss484775499, ss491457251, ss536863846, ss658239473, ss778804590, ss780681887, ss782834430, ss783355219, ss783799179, ss832087996, ss832776621, ss834264788, ss988793964, ss1077919488, ss1342329406, ss1426708608, ss1575854311, ss1627130673, ss1670124706, ss1752037673, ss1752037674, ss1917864816, ss1932153205, ss1946318727, ss1959373721, ss2026819417, ss2094791557, ss2095025032, ss2155131290, ss2632864488, ss2632864489, ss2710742178, ss2902656854, ss2984952702, ss2985595467, ss3008520841, ss3021362309, ss3349717808, ss3625606525, ss3626713826, ss3626713827, ss3630879740, ss3632993979, ss3633693732, ss3634468185, ss3634468186, ss3635385142, ss3636151797, ss3637136036, ss3637921810, ss3640175524, ss3640175525, ss3644571572, ss3651728800, ss3651728801, ss3653725045, ss3738400383, ss3744385770, ss3744769005, ss3744769006, ss3749617123, ss3772268803, ss3772268804, ss3832756604, ss3839936530, ss3876802451, ss3925231237, ss3984654697, ss3985547792, ss4017550920, ss5237498576, ss5401236687, ss5624281337, ss5651748321, ss5837012821, ss5847395169, ss5943070496, ss5979366827 | NC_000011.9:89011045:G:A | NC_000011.10:89277877:G:A | (self) |
| 72059032, 387376559, 661488, 864144, 85267019, 109972770, 13733062274, ss3027207210, ss3649665510, ss3692296910, ss3725263838, ss3771642675, ss3814948950, ss3845417282, ss4894427114, ss5288346747, ss5483404922, ss5584533097, ss5751429915, ss5921024235 | NC_000011.10:89277877:G:A | NC_000011.10:89277877:G:A | (self) |
| ss2188074, ss6051628, ss6903972, ss24409580, ss39990330, ss66606787, ss67093957, ss67428305, ss69323992, ss70428881, ss70612753, ss71160375, ss75813292, ss83752648, ss97497128, ss121675793, ss144351225, ss153410544, ss159264418, ss160346668, ss170455467, ss172467745, ss410906098, ss469414455, ss469415258 | NT_167190.1:34316840:G:A | NC_000011.10:89277877:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
35
citations for rs1393350
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18483556 | A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. | Han J et al. | 2008 | PLoS genetics |
| 19340012 | Genome-wide association study of tanning phenotype in a population of European ancestry. | Nan H et al. | 2009 | The Journal of investigative dermatology |
| 19384953 | Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. | Nan H et al. | 2009 | International journal of cancer |
| 19578364 | Genome-wide association study identifies three loci associated with melanoma risk. | Bishop DT et al. | 2009 | Nature 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 |
| 20410501 | Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. | Jin Y et al. | 2010 | The New England journal of medicine |
| 20463881 | Digital quantification of human eye color highlights genetic association of three new loci. | Liu F et al. | 2010 | PLoS genetics |
| 20505153 | A compendium of genome-wide associations for cancer: critical synopsis and reappraisal. | Ioannidis JP 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 |
| 20585627 | Web-based, participant-driven studies yield novel genetic associations for common traits. | Eriksson N et al. | 2010 | PLoS genetics |
| 21197618 | Model-based prediction of human hair color using DNA variants. | Branicki W et al. | 2011 | Human genetics |
| 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 |
| 21221757 | ASIP genetic variants and the number of non-melanoma skin cancers. | Lin W et al. | 2011 | Cancer causes & control |
| 21674838 | Genetic examination of the putative skull of Jan Kochanowski reveals its female sex. | Kupiec T et al. | 2011 | Croatian medical journal |
| 21926416 | Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. | Amos CI et al. | 2011 | Human molecular genetics |
| 21983787 | Genome-wide association study identifies three new melanoma susceptibility loci. | Barrett JH et al. | 2011 | Nature genetics |
| 22629401 | Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D. | Berry DJ et al. | 2012 | PloS one |
| 22988944 | Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases. | Arnold M et al. | 2012 | BMC genomics |
| 23927501 | Why it is hard to find genes associated with social science traits: theoretical and empirical considerations. | Chabris CF et al. | 2013 | American journal of public health |
| 23948321 | Genetic analyses of the human eye colours using a novel objective method for eye colour classification. | Andersen JD et al. | 2013 | Forensic science international. Genetics |
| 24274136 | Biobanking across the phenome - at the center of chronic disease research. | Imboden M et al. | 2013 | BMC public health |
| 24631691 | The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model. | Pietroni C et al. | 2014 | Forensic science international. Genetics |
| 24880832 | Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour. | Chaitanya L et al. | 2014 | Forensic science international. Genetics |
| 24924479 | Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children. | Bonilla C et al. | 2014 | BMC public health |
| 24926819 | Increased risk of developing cutaneous malignant melanoma is associated with variation in pigmentation genes and VDR, and may involve epistatic effects. | Kosiniak-Kamysz A et al. | 2014 | Melanoma research |
| 25077817 | Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. | Barrett JH et al. | 2015 | International journal of cancer |
| 25724930 | IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color. | Jacobs LC et al. | 2015 | Human molecular genetics |
| 26547235 | Crowdsourced direct-to-consumer genomic analysis of a family quartet. | Corpas M et al. | 2015 | BMC genomics |
| 26848990 | Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma. | Fesenko DO et al. | 2016 | Genetic testing and molecular biomarkers |
| 26870082 | Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci. | Shen C et al. | 2016 | Frontiers in genetics |
| 27221533 | Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics. | Pośpiech E et al. | 2016 | International journal of legal medicine |
| 27468418 | Importance of nonsynonymous OCA2 variants in human eye color prediction. | Andersen JD et al. | 2016 | Molecular genetics & genomic medicine |
| 32604780 | Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System. | Palencia-Madrid L et al. | 2020 | Genes |
| 34071952 | Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set. | Meyer OS et al. | 2021 | Genes |
| 35176104 | Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel. | Rauf S et al. | 2022 | PloS one |
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.