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.
rs240993
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:111352511 (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
- T>A / T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.301770 (98047/324906, ALFA)T=0.480505 (127185/264690, TOPMED)T=0.467170 (65359/139904, GnomAD) (+ 21 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- REV3L : Intron Variant
- Publications
- 10 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 | 325122 | T=0.301801 | A=0.000000, C=0.698199 |
| European | Sub | 280768 | T=0.271929 | A=0.000000, C=0.728071 |
| African | Sub | 8076 | T=0.8148 | A=0.0000, C=0.1852 |
| African Others | Sub | 316 | T=0.943 | A=0.000, C=0.057 |
| African American | Sub | 7760 | T=0.8095 | A=0.0000, C=0.1905 |
| Asian | Sub | 6874 | T=0.5617 | A=0.0000, C=0.4383 |
| East Asian | Sub | 4936 | T=0.5632 | A=0.0000, C=0.4368 |
| Other Asian | Sub | 1938 | T=0.5578 | A=0.0000, C=0.4422 |
| Latin American 1 | Sub | 1130 | T=0.3743 | A=0.0000, C=0.6257 |
| Latin American 2 | Sub | 7204 | T=0.4466 | A=0.0000, C=0.5534 |
| South Asian | Sub | 5224 | T=0.3580 | A=0.0000, C=0.6420 |
| Other | Sub | 15846 | T=0.36741 | A=0.00000, C=0.63259 |
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 | 324906 | T=0.301770 | A=0.000000, C=0.698230 |
| Allele Frequency Aggregator | European | Sub | 280588 | T=0.271915 | A=0.000000, C=0.728085 |
| Allele Frequency Aggregator | Other | Sub | 15824 | T=0.36729 | A=0.00000, C=0.63271 |
| Allele Frequency Aggregator | African | Sub | 8062 | T=0.8147 | A=0.0000, C=0.1853 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7204 | T=0.4466 | A=0.0000, C=0.5534 |
| Allele Frequency Aggregator | Asian | Sub | 6874 | T=0.5617 | A=0.0000, C=0.4383 |
| Allele Frequency Aggregator | South Asian | Sub | 5224 | T=0.3580 | A=0.0000, C=0.6420 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1130 | T=0.3743 | A=0.0000, C=0.6257 |
| TopMed | Global | Study-wide | 264690 | T=0.480505 | C=0.519495 |
| gnomAD - Genomes | Global | Study-wide | 139904 | T=0.467170 | C=0.532830 |
| gnomAD - Genomes | European | Sub | 75766 | T=0.28558 | C=0.71442 |
| gnomAD - Genomes | African | Sub | 41904 | T=0.81112 | C=0.18888 |
| gnomAD - Genomes | American | Sub | 13638 | T=0.42264 | C=0.57736 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | T=0.3769 | C=0.6231 |
| gnomAD - Genomes | East Asian | Sub | 3120 | T=0.5667 | C=0.4333 |
| gnomAD - Genomes | Other | Sub | 2154 | T=0.4406 | C=0.5594 |
| The PAGE Study | Global | Study-wide | 78690 | T=0.61707 | C=0.38293 |
| The PAGE Study | AfricanAmerican | Sub | 32510 | T=0.79609 | C=0.20391 |
| The PAGE Study | Mexican | Sub | 10810 | T=0.46485 | C=0.53515 |
| The PAGE Study | Asian | Sub | 8314 | T=0.6333 | C=0.3667 |
| The PAGE Study | PuertoRican | Sub | 7916 | T=0.4601 | C=0.5399 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | T=0.5037 | C=0.4963 |
| The PAGE Study | Cuban | Sub | 4230 | T=0.3629 | C=0.6371 |
| The PAGE Study | Dominican | Sub | 3828 | T=0.5441 | C=0.4559 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.4849 | C=0.5151 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.4218 | C=0.5782 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.4198 | C=0.5802 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.338 | C=0.662 |
| 14KJPN | JAPANESE | Study-wide | 28258 | T=0.65663 | C=0.34337 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.65340 | C=0.34660 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.5542 | C=0.4458 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.9054 | C=0.0946 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.2796 | C=0.7204 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.3802 | C=0.6198 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.5812 | C=0.4188 |
| 1000Genomes_30x | American | Sub | 980 | T=0.450 | C=0.550 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.5467 | C=0.4533 |
| 1000Genomes | African | Sub | 1322 | T=0.9032 | C=0.0968 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.5794 | C=0.4206 |
| 1000Genomes | Europe | Sub | 1006 | T=0.2883 | C=0.7117 |
| 1000Genomes | South Asian | Sub | 978 | T=0.368 | C=0.632 |
| 1000Genomes | American | Sub | 694 | T=0.447 | C=0.553 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.2882 | C=0.7118 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.2615 | C=0.7385 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.2656 | C=0.7344 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.5891 | C=0.4109 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | T=0.4822 | C=0.5178 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | T=0.587 | C=0.413 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | T=0.386 | C=0.614 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | T=0.366 | C=0.634 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | T=0.250 | C=0.750 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | T=0.950 | C=0.050 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | T=0.426 | C=0.574 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | T=0.54 | C=0.46 |
| HapMap | Global | Study-wide | 1886 | T=0.5885 | C=0.4115 |
| HapMap | American | Sub | 768 | T=0.441 | C=0.559 |
| HapMap | African | Sub | 690 | T=0.849 | C=0.151 |
| HapMap | Asian | Sub | 254 | T=0.575 | C=0.425 |
| HapMap | Europe | Sub | 174 | T=0.224 | C=0.776 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.5879 | C=0.4121 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.271 | C=0.729 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 774 | T=0.537 | C=0.463 |
| CNV burdens in cranial meningiomas | CRM | Sub | 774 | T=0.537 | C=0.463 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.335 | C=0.665 |
| SGDP_PRJ | Global | Study-wide | 402 | T=0.264 | C=0.736 |
| Qatari | Global | Study-wide | 216 | T=0.329 | C=0.671 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | T=0.528 | C=0.472 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 58 | T=0.21 | C=0.79 |
| Siberian | Global | Study-wide | 44 | T=0.36 | C=0.64 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.38 | C=0.62 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.111352511T>A |
| GRCh38.p14 chr 6 | NC_000006.12:g.111352511T>C |
| GRCh37.p13 chr 6 | NC_000006.11:g.111673714T>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.111673714T>C |
| REV3L RefSeqGene | NG_053000.1:g.136205A>T |
| REV3L RefSeqGene | NG_053000.1:g.136205A>G |
Gene: REV3L, REV3 like, DNA directed polymerase zeta catalytic subunit
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| REV3L transcript variant 2 |
NM_001286431.2:c.6951-720… NM_001286431.2:c.6951-720A>T |
N/A | Intron Variant |
| REV3L transcript variant 3 |
NM_001286432.2:c.6951-720… NM_001286432.2:c.6951-720A>T |
N/A | Intron Variant |
| REV3L transcript variant 4 |
NM_001372078.1:c.7185-720… NM_001372078.1:c.7185-720A>T |
N/A | Intron Variant |
| REV3L transcript variant 1 | NM_002912.5:c.7185-720A>T | N/A | Intron Variant |
| REV3L transcript variant X1 |
XM_011536028.3:c.7266-720… XM_011536028.3:c.7266-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X2 |
XM_011536029.4:c.7263-720… XM_011536029.4:c.7263-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X3 |
XM_011536030.4:c.7188-720… XM_011536030.4:c.7188-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X4 |
XM_011536032.3:c.7032-720… XM_011536032.3:c.7032-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X5 |
XM_047419215.1:c.7266-720… XM_047419215.1:c.7266-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X6 |
XM_047419216.1:c.7188-720… XM_047419216.1:c.7188-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X7 |
XM_047419217.1:c.7266-720… XM_047419217.1:c.7266-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X8 |
XM_047419218.1:c.7266-720… XM_047419218.1:c.7266-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X9 |
XM_047419219.1:c.7188-720… XM_047419219.1:c.7188-720A>T |
N/A | Intron Variant |
| REV3L transcript variant X10 | XM_047419220.1:c.*8-720A>T | N/A | Intron Variant |
| REV3L transcript variant X11 | XM_011536036.4:c. | N/A | Genic Downstream Transcript Variant |
| REV3L transcript variant X12 | XM_017011155.3:c. | N/A | Genic Downstream 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.
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 | T= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.111352511= | NC_000006.12:g.111352511T>A | NC_000006.12:g.111352511T>C |
| GRCh37.p13 chr 6 | NC_000006.11:g.111673714= | NC_000006.11:g.111673714T>A | NC_000006.11:g.111673714T>C |
| REV3L RefSeqGene | NG_053000.1:g.136205= | NG_053000.1:g.136205A>T | NG_053000.1:g.136205A>G |
| REV3L transcript variant 2 | NM_001286431.2:c.6951-720= | NM_001286431.2:c.6951-720A>T | NM_001286431.2:c.6951-720A>G |
| REV3L transcript variant 3 | NM_001286432.2:c.6951-720= | NM_001286432.2:c.6951-720A>T | NM_001286432.2:c.6951-720A>G |
| REV3L transcript variant 4 | NM_001372078.1:c.7185-720= | NM_001372078.1:c.7185-720A>T | NM_001372078.1:c.7185-720A>G |
| REV3L transcript | NM_002912.3:c.7185-720= | NM_002912.3:c.7185-720A>T | NM_002912.3:c.7185-720A>G |
| REV3L transcript variant 1 | NM_002912.5:c.7185-720= | NM_002912.5:c.7185-720A>T | NM_002912.5:c.7185-720A>G |
| REV3L transcript variant X1 | XM_005267088.1:c.6951-720= | XM_005267088.1:c.6951-720A>T | XM_005267088.1:c.6951-720A>G |
| REV3L transcript variant X2 | XM_005267089.1:c.6819-720= | XM_005267089.1:c.6819-720A>T | XM_005267089.1:c.6819-720A>G |
| REV3L transcript variant X3 | XM_005267090.1:c.7185-720= | XM_005267090.1:c.7185-720A>T | XM_005267090.1:c.7185-720A>G |
| REV3L transcript variant X4 | XM_005267091.1:c.7185-720= | XM_005267091.1:c.7185-720A>T | XM_005267091.1:c.7185-720A>G |
| REV3L transcript variant X1 | XM_011536028.3:c.7266-720= | XM_011536028.3:c.7266-720A>T | XM_011536028.3:c.7266-720A>G |
| REV3L transcript variant X2 | XM_011536029.4:c.7263-720= | XM_011536029.4:c.7263-720A>T | XM_011536029.4:c.7263-720A>G |
| REV3L transcript variant X3 | XM_011536030.4:c.7188-720= | XM_011536030.4:c.7188-720A>T | XM_011536030.4:c.7188-720A>G |
| REV3L transcript variant X4 | XM_011536032.3:c.7032-720= | XM_011536032.3:c.7032-720A>T | XM_011536032.3:c.7032-720A>G |
| REV3L transcript variant X5 | XM_047419215.1:c.7266-720= | XM_047419215.1:c.7266-720A>T | XM_047419215.1:c.7266-720A>G |
| REV3L transcript variant X6 | XM_047419216.1:c.7188-720= | XM_047419216.1:c.7188-720A>T | XM_047419216.1:c.7188-720A>G |
| REV3L transcript variant X7 | XM_047419217.1:c.7266-720= | XM_047419217.1:c.7266-720A>T | XM_047419217.1:c.7266-720A>G |
| REV3L transcript variant X8 | XM_047419218.1:c.7266-720= | XM_047419218.1:c.7266-720A>T | XM_047419218.1:c.7266-720A>G |
| REV3L transcript variant X9 | XM_047419219.1:c.7188-720= | XM_047419219.1:c.7188-720A>T | XM_047419219.1:c.7188-720A>G |
| REV3L transcript variant X10 | XM_047419220.1:c.*8-720= | XM_047419220.1:c.*8-720A>T | XM_047419220.1:c.*8-720A>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#.
161 SubSNP,
24 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | KWOK | ss310265 | Jul 12, 2000 (79) |
| 2 | SC_JCM | ss621408 | Jul 16, 2000 (80) |
| 3 | KWOK | ss1018936 | Oct 04, 2000 (86) |
| 4 | KWOK | ss1823826 | Oct 18, 2000 (87) |
| 5 | SC_SNP | ss13117394 | Dec 05, 2003 (119) |
| 6 | CSHL-HAPMAP | ss17101163 | Feb 27, 2004 (120) |
| 7 | PERLEGEN | ss24038771 | Sep 20, 2004 (123) |
| 8 | EGP_SNPS | ss28475416 | Sep 20, 2004 (126) |
| 9 | ABI | ss44700658 | Mar 11, 2006 (126) |
| 10 | ILLUMINA | ss66557241 | Dec 02, 2006 (127) |
| 11 | EGP_SNPS | ss66857779 | Dec 02, 2006 (127) |
| 12 | ILLUMINA | ss67252547 | Dec 02, 2006 (127) |
| 13 | ILLUMINA | ss67650434 | Dec 02, 2006 (127) |
| 14 | CSHL-HAPMAP | ss68404256 | Jan 12, 2007 (127) |
| 15 | PERLEGEN | ss68987798 | May 18, 2007 (127) |
| 16 | ILLUMINA | ss70730889 | May 26, 2008 (130) |
| 17 | ILLUMINA | ss71300351 | May 18, 2007 (127) |
| 18 | ILLUMINA | ss75326643 | Dec 07, 2007 (129) |
| 19 | ILLUMINA | ss79133936 | Dec 16, 2007 (130) |
| 20 | KRIBB_YJKIM | ss83398808 | Dec 16, 2007 (130) |
| 21 | BCMHGSC_JDW | ss93538063 | Mar 24, 2008 (129) |
| 22 | HUMANGENOME_JCVI | ss98530999 | Feb 06, 2009 (130) |
| 23 | BGI | ss104348082 | Dec 01, 2009 (131) |
| 24 | 1000GENOMES | ss110732592 | Jan 25, 2009 (130) |
| 25 | ILLUMINA | ss122028866 | Dec 01, 2009 (131) |
| 26 | ENSEMBL | ss139731021 | Dec 01, 2009 (131) |
| 27 | ENSEMBL | ss144231721 | Dec 01, 2009 (131) |
| 28 | ILLUMINA | ss153910415 | Dec 01, 2009 (131) |
| 29 | ILLUMINA | ss159388251 | Dec 01, 2009 (131) |
| 30 | ILLUMINA | ss160544961 | Dec 01, 2009 (131) |
| 31 | COMPLETE_GENOMICS | ss162713629 | Jul 04, 2010 (132) |
| 32 | COMPLETE_GENOMICS | ss167149251 | Jul 04, 2010 (132) |
| 33 | ILLUMINA | ss171245701 | Jul 04, 2010 (132) |
| 34 | ILLUMINA | ss173331857 | Jul 04, 2010 (132) |
| 35 | BCM-HGSC-SUB | ss207649488 | Jul 04, 2010 (132) |
| 36 | 1000GENOMES | ss222610298 | Jul 14, 2010 (132) |
| 37 | 1000GENOMES | ss233636991 | Jul 15, 2010 (132) |
| 38 | 1000GENOMES | ss240661077 | Jul 15, 2010 (132) |
| 39 | BL | ss254643133 | May 09, 2011 (134) |
| 40 | GMI | ss278974809 | May 04, 2012 (137) |
| 41 | GMI | ss285484007 | Apr 25, 2013 (138) |
| 42 | PJP | ss293699174 | May 09, 2011 (134) |
| 43 | ILLUMINA | ss410922958 | Sep 17, 2011 (135) |
| 44 | ILLUMINA | ss480560881 | May 04, 2012 (137) |
| 45 | ILLUMINA | ss480575236 | May 04, 2012 (137) |
| 46 | ILLUMINA | ss481394124 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss485076032 | May 04, 2012 (137) |
| 48 | EXOME_CHIP | ss491390427 | May 04, 2012 (137) |
| 49 | ILLUMINA | ss537087822 | Sep 08, 2015 (146) |
| 50 | TISHKOFF | ss559450192 | Apr 25, 2013 (138) |
| 51 | SSMP | ss653572900 | Apr 25, 2013 (138) |
| 52 | ILLUMINA | ss778495300 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss780683435 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss782984305 | Sep 08, 2015 (146) |
| 55 | ILLUMINA | ss783356831 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss783945255 | Sep 08, 2015 (146) |
| 57 | ILLUMINA | ss825464454 | Apr 01, 2015 (144) |
| 58 | ILLUMINA | ss832240943 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss832900008 | Jul 13, 2019 (153) |
| 60 | ILLUMINA | ss833951350 | Sep 08, 2015 (146) |
| 61 | EVA-GONL | ss983373122 | Aug 21, 2014 (142) |
| 62 | JMKIDD_LAB | ss1073938072 | Aug 21, 2014 (142) |
| 63 | 1000GENOMES | ss1321788233 | Aug 21, 2014 (142) |
| 64 | DDI | ss1430859883 | Apr 01, 2015 (144) |
| 65 | EVA_GENOME_DK | ss1581847780 | Apr 01, 2015 (144) |
| 66 | EVA_DECODE | ss1592935156 | Apr 01, 2015 (144) |
| 67 | EVA_UK10K_ALSPAC | ss1616436862 | Apr 01, 2015 (144) |
| 68 | EVA_UK10K_TWINSUK | ss1659430895 | Apr 01, 2015 (144) |
| 69 | EVA_SVP | ss1712891252 | Apr 01, 2015 (144) |
| 70 | ILLUMINA | ss1752595625 | Sep 08, 2015 (146) |
| 71 | ILLUMINA | ss1752595626 | Sep 08, 2015 (146) |
| 72 | HAMMER_LAB | ss1804618665 | Sep 08, 2015 (146) |
| 73 | ILLUMINA | ss1917809579 | Feb 12, 2016 (147) |
| 74 | WEILL_CORNELL_DGM | ss1926620075 | Feb 12, 2016 (147) |
| 75 | ILLUMINA | ss1946188439 | Feb 12, 2016 (147) |
| 76 | ILLUMINA | ss1958941670 | Feb 12, 2016 (147) |
| 77 | GENOMED | ss1970497958 | Jul 19, 2016 (147) |
| 78 | JJLAB | ss2023960541 | Sep 14, 2016 (149) |
| 79 | ILLUMINA | ss2094828701 | Dec 20, 2016 (150) |
| 80 | ILLUMINA | ss2095186960 | Dec 20, 2016 (150) |
| 81 | USC_VALOUEV | ss2152155574 | Dec 20, 2016 (150) |
| 82 | HUMAN_LONGEVITY | ss2287357395 | Dec 20, 2016 (150) |
| 83 | SYSTEMSBIOZJU | ss2626475324 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss2634497379 | Nov 08, 2017 (151) |
| 85 | ILLUMINA | ss2634497380 | Nov 08, 2017 (151) |
| 86 | ILLUMINA | ss2634497381 | Nov 08, 2017 (151) |
| 87 | ILLUMINA | ss2635160639 | Nov 08, 2017 (151) |
| 88 | GRF | ss2707782007 | Nov 08, 2017 (151) |
| 89 | GNOMAD | ss2843719640 | Nov 08, 2017 (151) |
| 90 | AFFY | ss2985379898 | Nov 08, 2017 (151) |
| 91 | AFFY | ss2986010463 | Nov 08, 2017 (151) |
| 92 | SWEGEN | ss2999757135 | Nov 08, 2017 (151) |
| 93 | ILLUMINA | ss3022655976 | Nov 08, 2017 (151) |
| 94 | BIOINF_KMB_FNS_UNIBA | ss3025775459 | Nov 08, 2017 (151) |
| 95 | CSHL | ss3347175101 | Nov 08, 2017 (151) |
| 96 | ILLUMINA | ss3629629968 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3629629969 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3632411457 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3633433846 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3634157285 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3635083337 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3635083338 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3635837823 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3636808080 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3637590672 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3638650783 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3639326220 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3639689803 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3640790637 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3640790638 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3643590381 | Oct 12, 2018 (152) |
| 112 | ILLUMINA | ss3644921556 | Oct 12, 2018 (152) |
| 113 | URBANLAB | ss3648446109 | Oct 12, 2018 (152) |
| 114 | ILLUMINA | ss3653175768 | Oct 12, 2018 (152) |
| 115 | ILLUMINA | ss3653175769 | Oct 12, 2018 (152) |
| 116 | ILLUMINA | ss3654144538 | Oct 12, 2018 (152) |
| 117 | EGCUT_WGS | ss3667655250 | Jul 13, 2019 (153) |
| 118 | EVA_DECODE | ss3718041286 | Jul 13, 2019 (153) |
| 119 | ILLUMINA | ss3726374702 | Jul 13, 2019 (153) |
| 120 | ACPOP | ss3733876667 | Jul 13, 2019 (153) |
| 121 | ILLUMINA | ss3744559270 | Jul 13, 2019 (153) |
| 122 | ILLUMINA | ss3745383270 | Jul 13, 2019 (153) |
| 123 | ILLUMINA | ss3745383271 | Jul 13, 2019 (153) |
| 124 | EVA | ss3765523224 | Jul 13, 2019 (153) |
| 125 | PAGE_CC | ss3771315712 | Jul 13, 2019 (153) |
| 126 | ILLUMINA | ss3772876693 | Jul 13, 2019 (153) |
| 127 | ILLUMINA | ss3772876694 | Jul 13, 2019 (153) |
| 128 | PACBIO | ss3785589085 | Jul 13, 2019 (153) |
| 129 | PACBIO | ss3790922444 | Jul 13, 2019 (153) |
| 130 | PACBIO | ss3795801644 | Jul 13, 2019 (153) |
| 131 | KHV_HUMAN_GENOMES | ss3808677551 | Jul 13, 2019 (153) |
| 132 | EVA | ss3830135757 | Apr 26, 2020 (154) |
| 133 | EVA | ss3838550753 | Apr 26, 2020 (154) |
| 134 | EVA | ss3844000031 | Apr 26, 2020 (154) |
| 135 | HGDP | ss3847846710 | Apr 26, 2020 (154) |
| 136 | SGDP_PRJ | ss3865454072 | Apr 26, 2020 (154) |
| 137 | KRGDB | ss3912384847 | Apr 26, 2020 (154) |
| 138 | KOGIC | ss3959851089 | Apr 26, 2020 (154) |
| 139 | EVA | ss3984574834 | Apr 26, 2021 (155) |
| 140 | EVA | ss3985244787 | Apr 26, 2021 (155) |
| 141 | TOPMED | ss4717574786 | Apr 26, 2021 (155) |
| 142 | TOMMO_GENOMICS | ss5179383344 | Apr 26, 2021 (155) |
| 143 | EVA | ss5237405172 | Apr 26, 2021 (155) |
| 144 | 1000G_HIGH_COVERAGE | ss5269924922 | Oct 13, 2022 (156) |
| 145 | EVA | ss5315182651 | Oct 13, 2022 (156) |
| 146 | EVA | ss5368232027 | Oct 13, 2022 (156) |
| 147 | HUGCELL_USP | ss5467407032 | Oct 13, 2022 (156) |
| 148 | EVA | ss5508662533 | Oct 13, 2022 (156) |
| 149 | 1000G_HIGH_COVERAGE | ss5556644525 | Oct 13, 2022 (156) |
| 150 | SANFORD_IMAGENETICS | ss5624639243 | Oct 13, 2022 (156) |
| 151 | SANFORD_IMAGENETICS | ss5641246542 | Oct 13, 2022 (156) |
| 152 | TOMMO_GENOMICS | ss5718117635 | Oct 13, 2022 (156) |
| 153 | EVA | ss5799699233 | Oct 13, 2022 (156) |
| 154 | YY_MCH | ss5807853221 | Oct 13, 2022 (156) |
| 155 | EVA | ss5842823124 | Oct 13, 2022 (156) |
| 156 | EVA | ss5847301570 | Oct 13, 2022 (156) |
| 157 | EVA | ss5848109557 | Oct 13, 2022 (156) |
| 158 | EVA | ss5855533543 | Oct 13, 2022 (156) |
| 159 | EVA | ss5885468590 | Oct 13, 2022 (156) |
| 160 | EVA | ss5969765283 | Oct 13, 2022 (156) |
| 161 | EVA | ss5979798725 | Oct 13, 2022 (156) |
| 162 | 1000Genomes | NC_000006.11 - 111673714 | Oct 12, 2018 (152) |
| 163 | 1000Genomes_30x | NC_000006.12 - 111352511 | Oct 13, 2022 (156) |
| 164 | The Avon Longitudinal Study of Parents and Children | NC_000006.11 - 111673714 | Oct 12, 2018 (152) |
| 165 | Genetic variation in the Estonian population | NC_000006.11 - 111673714 | Oct 12, 2018 (152) |
| 166 | The Danish reference pan genome | NC_000006.11 - 111673714 | Apr 26, 2020 (154) |
| 167 | gnomAD - Genomes | NC_000006.12 - 111352511 | Apr 26, 2021 (155) |
| 168 | Genome of the Netherlands Release 5 | NC_000006.11 - 111673714 | Apr 26, 2020 (154) |
| 169 | HGDP-CEPH-db Supplement 1 | NC_000006.10 - 111780407 | Apr 26, 2020 (154) |
| 170 | HapMap | NC_000006.12 - 111352511 | Apr 26, 2020 (154) |
| 171 | KOREAN population from KRGDB | NC_000006.11 - 111673714 | Apr 26, 2020 (154) |
| 172 | Korean Genome Project | NC_000006.12 - 111352511 | Apr 26, 2020 (154) |
| 173 | Northern Sweden | NC_000006.11 - 111673714 | Jul 13, 2019 (153) |
| 174 | The PAGE Study | NC_000006.12 - 111352511 | Jul 13, 2019 (153) |
| 175 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000006.11 - 111673714 | Apr 26, 2021 (155) |
| 176 | CNV burdens in cranial meningiomas | NC_000006.11 - 111673714 | Apr 26, 2021 (155) |
| 177 | Qatari | NC_000006.11 - 111673714 | Apr 26, 2020 (154) |
| 178 | SGDP_PRJ | NC_000006.11 - 111673714 | Apr 26, 2020 (154) |
| 179 | Siberian | NC_000006.11 - 111673714 | Apr 26, 2020 (154) |
| 180 | 8.3KJPN | NC_000006.11 - 111673714 | Apr 26, 2021 (155) |
| 181 | 14KJPN | NC_000006.12 - 111352511 | Oct 13, 2022 (156) |
| 182 | TopMed | NC_000006.12 - 111352511 | Apr 26, 2021 (155) |
| 183 | UK 10K study - Twins | NC_000006.11 - 111673714 | Oct 12, 2018 (152) |
| 184 | A Vietnamese Genetic Variation Database | NC_000006.11 - 111673714 | Jul 13, 2019 (153) |
| 185 | ALFA | NC_000006.12 - 111352511 | 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) |
|---|---|
| rs17511139 | Mar 11, 2006 (126) |
| rs61096863 | May 26, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 3323206773 | NC_000006.12:111352510:T:A | NC_000006.12:111352510:T:A | (self) |
| ss3639326220, ss3639689803 | NC_000006.9:111780406:T:C | NC_000006.12:111352510:T:C | (self) |
| 524602, ss93538063, ss110732592, ss162713629, ss167149251, ss207649488, ss254643133, ss278974809, ss285484007, ss293699174, ss480560881, ss825464454, ss1592935156, ss1712891252, ss2635160639, ss3643590381, ss3847846710 | NC_000006.10:111780406:T:C | NC_000006.12:111352510:T:C | (self) |
| 33638644, 18742463, 13393498, 8012719, 8350627, 19562241, 7161532, 470714, 124244, 8662005, 17471052, 4671928, 37352651, 18742463, 4169473, ss222610298, ss233636991, ss240661077, ss480575236, ss481394124, ss485076032, ss491390427, ss537087822, ss559450192, ss653572900, ss778495300, ss780683435, ss782984305, ss783356831, ss783945255, ss832240943, ss832900008, ss833951350, ss983373122, ss1073938072, ss1321788233, ss1430859883, ss1581847780, ss1616436862, ss1659430895, ss1752595625, ss1752595626, ss1804618665, ss1917809579, ss1926620075, ss1946188439, ss1958941670, ss1970497958, ss2023960541, ss2094828701, ss2095186960, ss2152155574, ss2626475324, ss2634497379, ss2634497380, ss2634497381, ss2707782007, ss2843719640, ss2985379898, ss2986010463, ss2999757135, ss3022655976, ss3347175101, ss3629629968, ss3629629969, ss3632411457, ss3633433846, ss3634157285, ss3635083337, ss3635083338, ss3635837823, ss3636808080, ss3637590672, ss3638650783, ss3640790637, ss3640790638, ss3644921556, ss3653175768, ss3653175769, ss3654144538, ss3667655250, ss3733876667, ss3744559270, ss3745383270, ss3745383271, ss3765523224, ss3772876693, ss3772876694, ss3785589085, ss3790922444, ss3795801644, ss3830135757, ss3838550753, ss3865454072, ss3912384847, ss3984574834, ss3985244787, ss5179383344, ss5237405172, ss5315182651, ss5368232027, ss5508662533, ss5624639243, ss5641246542, ss5799699233, ss5842823124, ss5847301570, ss5848109557, ss5969765283, ss5979798725 | NC_000006.11:111673713:T:C | NC_000006.12:111352510:T:C | (self) |
| 44170460, 237527581, 3221272, 16229090, 537181, 51954739, 554952344, 3323206773, ss2287357395, ss3025775459, ss3648446109, ss3718041286, ss3726374702, ss3771315712, ss3808677551, ss3844000031, ss3959851089, ss4717574786, ss5269924922, ss5467407032, ss5556644525, ss5718117635, ss5807853221, ss5855533543, ss5885468590 | NC_000006.12:111352510:T:C | NC_000006.12:111352510:T:C | (self) |
| ss13117394 | NT_025741.12:15843142:T:C | NC_000006.12:111352510:T:C | (self) |
| ss17101163 | NT_025741.13:15843142:T:C | NC_000006.12:111352510:T:C | (self) |
| ss310265, ss621408, ss1018936, ss1823826, ss24038771, ss28475416, ss44700658, ss66557241, ss66857779, ss67252547, ss67650434, ss68404256, ss68987798, ss70730889, ss71300351, ss75326643, ss79133936, ss83398808, ss98530999, ss104348082, ss122028866, ss139731021, ss144231721, ss153910415, ss159388251, ss160544961, ss171245701, ss173331857, ss410922958 | NT_025741.15:15843170:T:C | NC_000006.12:111352510:T:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
10
citations for rs240993
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 20953190 | A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. | Strange A et al. | 2010 | Nature genetics |
| 23886662 | A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. | Weidinger S et al. | 2013 | Human molecular genetics |
| 24069534 | Genetics of psoriasis and pharmacogenetics of biological drugs. | Prieto-Pérez R et al. | 2013 | Autoimmune diseases |
| 24175098 | The role of 39 psoriasis risk variants on age of psoriasis onset. | Lu Y et al. | 2013 | ISRN dermatology |
| 25655172 | Filter-free exhaustive odds ratio-based genome-wide interaction approach pinpoints evidence for interaction in the HLA region in psoriasis. | Grange L et al. | 2015 | BMC genetics |
| 27073425 | Candidate gene polymorphisms and risk of psoriasis: A pilot study. | Villarreal-Martínez A et al. | 2016 | Experimental and therapeutic medicine |
| 27810495 | Psoriasis risk SNPs and their association with HIV-1 control. | Nititham J et al. | 2017 | Human immunology |
| 28617847 | The association between 38 previously reported polymorphisms and psoriasis in a Polish population: High predicative accuracy of a genetic risk score combining 16 loci. | Kisiel B et al. | 2017 | PloS one |
| 32779262 | A framework for pathway knowledge driven prioritization in genome-wide association studies. | Biswas S et al. | 2020 | Genetic epidemiology |
| 34127053 | Clinical, laboratory, and genetic markers for the development or presence of psoriatic arthritis in psoriasis patients: a systematic review. | Mulder MLM et al. | 2021 | Arthritis research & therapy |
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
Top▲
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.