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.
rs2872507
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr17:39884510 (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 / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.432731 (142731/329838, ALFA)A=0.366814 (97092/264690, TOPMED)A=0.26148 (7389/28258, 14KJPN) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
None
- Publications
- 45 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 330054 | G=0.567286 | A=0.432714, T=0.000000 | 0.327395 | 0.192823 | 0.479782 | 32 |
| European | Sub | 281462 | G=0.549083 | A=0.450917, T=0.000000 | 0.30365 | 0.205484 | 0.490866 | 6 |
| African | Sub | 10090 | G=0.78186 | A=0.21814, T=0.00000 | 0.622597 | 0.05887 | 0.318533 | 12 |
| African Others | Sub | 370 | G=0.797 | A=0.203, T=0.000 | 0.648649 | 0.054054 | 0.297297 | 1 |
| African American | Sub | 9720 | G=0.7813 | A=0.2187, T=0.0000 | 0.621605 | 0.059053 | 0.319342 | 12 |
| Asian | Sub | 6840 | G=0.7308 | A=0.2692, T=0.0000 | 0.532164 | 0.070468 | 0.397368 | 0 |
| East Asian | Sub | 4880 | G=0.7465 | A=0.2535, T=0.0000 | 0.554508 | 0.061475 | 0.384016 | 0 |
| Other Asian | Sub | 1960 | G=0.6918 | A=0.3082, T=0.0000 | 0.476531 | 0.092857 | 0.430612 | 0 |
| Latin American 1 | Sub | 1196 | G=0.6196 | A=0.3804, T=0.0000 | 0.394649 | 0.155518 | 0.449833 | 1 |
| Latin American 2 | Sub | 9040 | G=0.6697 | A=0.3303, T=0.0000 | 0.452876 | 0.113496 | 0.433628 | 1 |
| South Asian | Sub | 5174 | G=0.6181 | A=0.3819, T=0.0000 | 0.3908 | 0.154619 | 0.454581 | 2 |
| Other | Sub | 16252 | G=0.60349 | A=0.39651, T=0.00000 | 0.374231 | 0.167241 | 0.458528 | 8 |
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 | 329838 | G=0.567269 | A=0.432731, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 281282 | G=0.549068 | A=0.450932, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 16230 | G=0.60345 | A=0.39655, T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 10076 | G=0.78186 | A=0.21814, T=0.00000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 9040 | G=0.6697 | A=0.3303, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 6840 | G=0.7308 | A=0.2692, T=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 5174 | G=0.6181 | A=0.3819, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1196 | G=0.6196 | A=0.3804, T=0.0000 |
| TopMed | Global | Study-wide | 264690 | G=0.633186 | A=0.366814 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.73852 | A=0.26148 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.73753 | A=0.26247 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.6754 | A=0.3246 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.7654 | A=0.2346 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.5253 | A=0.4747 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.6847 | A=0.3153 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.7171 | A=0.2829 |
| 1000Genomes_30x | American | Sub | 980 | G=0.644 | A=0.356 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.6739 | A=0.3261 |
| 1000Genomes | African | Sub | 1322 | G=0.7557 | A=0.2443 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.7173 | A=0.2827 |
| 1000Genomes | Europe | Sub | 1006 | G=0.5278 | A=0.4722 |
| 1000Genomes | South Asian | Sub | 978 | G=0.687 | A=0.313 |
| 1000Genomes | American | Sub | 694 | G=0.648 | A=0.352 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.5609 | A=0.4391 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.5246 | A=0.4754 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.5316 | A=0.4684 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.7369 | A=0.2631 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | G=0.6204 | A=0.3796 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.664 | A=0.336 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.556 | A=0.444 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.686 | A=0.314 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.544 | A=0.456 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.748 | A=0.252 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=0.468 | A=0.532 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.76 | A=0.24 |
| HapMap | Global | Study-wide | 1892 | G=0.6882 | A=0.3118 |
| HapMap | American | Sub | 770 | G=0.619 | A=0.381 |
| HapMap | African | Sub | 692 | G=0.802 | A=0.198 |
| HapMap | Asian | Sub | 254 | G=0.681 | A=0.319 |
| HapMap | Europe | Sub | 176 | G=0.551 | A=0.449 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | G=0.6092 | A=0.3908 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | G=0.608 | A=0.392 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=0.646 | A=0.354 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | G=0.557 | A=0.443 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=0.509 | A=0.491 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | G=0.72 | A=0.28 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | G=0.64 | A=0.36 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.548 | A=0.452 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.686 | A=0.314 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.686 | A=0.314 |
| Chileans | Chilean | Study-wide | 626 | G=0.628 | A=0.372 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.527 | A=0.473 |
| SGDP_PRJ | Global | Study-wide | 328 | G=0.402 | A=0.598 |
| Qatari | Global | Study-wide | 216 | G=0.662 | A=0.338 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | G=0.776 | A=0.224 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 46 | G=0.57 | A=0.43 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.68 | A=0.33 |
| Siberian | Global | Study-wide | 32 | G=0.38 | A=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 17 | NC_000017.11:g.39884510G>A |
| GRCh38.p14 chr 17 | NC_000017.11:g.39884510G>T |
| GRCh37.p13 chr 17 | NC_000017.10:g.38040763G>A |
| GRCh37.p13 chr 17 | NC_000017.10:g.38040763G>T |
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 | T |
|---|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.39884510= | NC_000017.11:g.39884510G>A | NC_000017.11:g.39884510G>T |
| GRCh37.p13 chr 17 | NC_000017.10:g.38040763= | NC_000017.10:g.38040763G>A | NC_000017.10:g.38040763G>T |
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#.
150 SubSNP,
25 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss4062650 | Nov 05, 2001 (101) |
| 2 | SC_JCM | ss5900669 | Feb 20, 2003 (111) |
| 3 | SSAHASNP | ss21411968 | Apr 05, 2004 (121) |
| 4 | PERLEGEN | ss24535231 | Sep 20, 2004 (123) |
| 5 | ABI | ss44021573 | Mar 13, 2006 (126) |
| 6 | AFFY | ss66434562 | Dec 02, 2006 (127) |
| 7 | ILLUMINA | ss67280275 | Dec 02, 2006 (127) |
| 8 | ILLUMINA | ss67682271 | Dec 02, 2006 (127) |
| 9 | ILLUMINA | ss68214186 | Dec 12, 2006 (127) |
| 10 | ILLUMINA | ss70758788 | May 26, 2008 (130) |
| 11 | ILLUMINA | ss71332335 | May 18, 2007 (127) |
| 12 | ILLUMINA | ss75781756 | Dec 06, 2007 (129) |
| 13 | AFFY | ss76210113 | Dec 06, 2007 (129) |
| 14 | KRIBB_YJKIM | ss84111791 | Dec 15, 2007 (130) |
| 15 | BCMHGSC_JDW | ss90584905 | Mar 24, 2008 (129) |
| 16 | HUMANGENOME_JCVI | ss96545176 | Feb 06, 2009 (130) |
| 17 | 1000GENOMES | ss109756272 | Jan 24, 2009 (130) |
| 18 | 1000GENOMES | ss113519693 | Jan 25, 2009 (130) |
| 19 | ENSEMBL | ss136572653 | Dec 01, 2009 (131) |
| 20 | ENSEMBL | ss137064828 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss154242799 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss159419535 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss160593446 | Dec 01, 2009 (131) |
| 24 | COMPLETE_GENOMICS | ss169578546 | Jul 04, 2010 (132) |
| 25 | COMPLETE_GENOMICS | ss171373270 | Jul 04, 2010 (132) |
| 26 | AFFY | ss172823902 | Jul 04, 2010 (132) |
| 27 | ILLUMINA | ss173516530 | Jul 04, 2010 (132) |
| 28 | BUSHMAN | ss202495551 | Jul 04, 2010 (132) |
| 29 | BCM-HGSC-SUB | ss207875189 | Jul 04, 2010 (132) |
| 30 | 1000GENOMES | ss227541330 | Jul 14, 2010 (132) |
| 31 | 1000GENOMES | ss237238582 | Jul 15, 2010 (132) |
| 32 | 1000GENOMES | ss243538348 | Jul 15, 2010 (132) |
| 33 | GMI | ss282760343 | May 04, 2012 (137) |
| 34 | GMI | ss287178460 | Apr 25, 2013 (138) |
| 35 | PJP | ss292047989 | May 09, 2011 (134) |
| 36 | ILLUMINA | ss410926847 | Sep 17, 2011 (135) |
| 37 | ILLUMINA | ss480702301 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss480717924 | May 04, 2012 (137) |
| 39 | ILLUMINA | ss481588212 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss485145954 | May 04, 2012 (137) |
| 41 | EXOME_CHIP | ss491521384 | May 04, 2012 (137) |
| 42 | ILLUMINA | ss537142475 | Sep 08, 2015 (146) |
| 43 | TISHKOFF | ss565263133 | Apr 25, 2013 (138) |
| 44 | SSMP | ss661065042 | Apr 25, 2013 (138) |
| 45 | ILLUMINA | ss778882970 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss780684052 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss783019261 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss783357479 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss783979246 | Sep 08, 2015 (146) |
| 50 | ILLUMINA | ss832276757 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss832931188 | Jul 13, 2019 (153) |
| 52 | ILLUMINA | ss834343995 | Sep 08, 2015 (146) |
| 53 | EVA-GONL | ss993090808 | Aug 21, 2014 (142) |
| 54 | JMKIDD_LAB | ss1081047278 | Aug 21, 2014 (142) |
| 55 | 1000GENOMES | ss1358582630 | Aug 21, 2014 (142) |
| 56 | HAMMER_LAB | ss1397730157 | Sep 08, 2015 (146) |
| 57 | DDI | ss1428028924 | Apr 01, 2015 (144) |
| 58 | EVA_GENOME_DK | ss1578151039 | Apr 01, 2015 (144) |
| 59 | EVA_UK10K_ALSPAC | ss1635616886 | Apr 01, 2015 (144) |
| 60 | EVA_UK10K_TWINSUK | ss1678610919 | Apr 01, 2015 (144) |
| 61 | EVA_DECODE | ss1697132893 | Apr 01, 2015 (144) |
| 62 | EVA_SVP | ss1713581412 | Apr 01, 2015 (144) |
| 63 | ILLUMINA | ss1752224231 | Sep 08, 2015 (146) |
| 64 | ILLUMINA | ss1752224232 | Sep 08, 2015 (146) |
| 65 | HAMMER_LAB | ss1808775074 | Sep 08, 2015 (146) |
| 66 | ILLUMINA | ss1917917816 | Feb 12, 2016 (147) |
| 67 | WEILL_CORNELL_DGM | ss1936550286 | Feb 12, 2016 (147) |
| 68 | ILLUMINA | ss1946444911 | Feb 12, 2016 (147) |
| 69 | GENOMED | ss1968386801 | Jul 19, 2016 (147) |
| 70 | JJLAB | ss2029052989 | Sep 14, 2016 (149) |
| 71 | ILLUMINA | ss2094894741 | Dec 20, 2016 (150) |
| 72 | ILLUMINA | ss2095073978 | Dec 20, 2016 (150) |
| 73 | ILLUMINA | ss2095073979 | Dec 20, 2016 (150) |
| 74 | USC_VALOUEV | ss2157521635 | Dec 20, 2016 (150) |
| 75 | HUMAN_LONGEVITY | ss2216700465 | Dec 20, 2016 (150) |
| 76 | SYSTEMSBIOZJU | ss2629022191 | Nov 08, 2017 (151) |
| 77 | ILLUMINA | ss2633394794 | Nov 08, 2017 (151) |
| 78 | GRF | ss2702083090 | Nov 08, 2017 (151) |
| 79 | GNOMAD | ss2949661435 | Nov 08, 2017 (151) |
| 80 | AFFY | ss2985094307 | Nov 08, 2017 (151) |
| 81 | AFFY | ss2985730849 | Nov 08, 2017 (151) |
| 82 | SWEGEN | ss3015504489 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss3021777069 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss3021777070 | Nov 08, 2017 (151) |
| 85 | BIOINF_KMB_FNS_UNIBA | ss3028346747 | Nov 08, 2017 (151) |
| 86 | CSHL | ss3351738951 | Nov 08, 2017 (151) |
| 87 | ILLUMINA | ss3627664815 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3627664816 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3631376083 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3633141006 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3633848477 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3634673894 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3634673895 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3635536253 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3636363949 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3637287794 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3638160021 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3639089722 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3639853420 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3640381207 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3640381208 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3641080656 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3641376143 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3643138622 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3643902850 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3644687253 | Oct 12, 2018 (152) |
| 107 | URBANLAB | ss3650650724 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3652192508 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3652192509 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3652192510 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3653866064 | Oct 12, 2018 (152) |
| 112 | EGCUT_WGS | ss3682395334 | Jul 13, 2019 (153) |
| 113 | EVA_DECODE | ss3700430594 | Jul 13, 2019 (153) |
| 114 | ILLUMINA | ss3725618996 | Jul 13, 2019 (153) |
| 115 | ACPOP | ss3742011511 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3744443099 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3744974194 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3744974195 | Jul 13, 2019 (153) |
| 119 | EVA | ss3754646396 | Jul 13, 2019 (153) |
| 120 | ILLUMINA | ss3772472092 | Jul 13, 2019 (153) |
| 121 | ILLUMINA | ss3772472093 | Jul 13, 2019 (153) |
| 122 | KHV_HUMAN_GENOMES | ss3819917424 | Jul 13, 2019 (153) |
| 123 | EVA | ss3834858822 | Apr 27, 2020 (154) |
| 124 | EVA | ss3841039340 | Apr 27, 2020 (154) |
| 125 | EVA | ss3846536025 | Apr 27, 2020 (154) |
| 126 | HGDP | ss3847563704 | Apr 27, 2020 (154) |
| 127 | SGDP_PRJ | ss3885713728 | Apr 27, 2020 (154) |
| 128 | KRGDB | ss3935389724 | Apr 27, 2020 (154) |
| 129 | EVA | ss3984722830 | Apr 27, 2021 (155) |
| 130 | EVA | ss3985790266 | Apr 27, 2021 (155) |
| 131 | TOPMED | ss5035358167 | Apr 27, 2021 (155) |
| 132 | TOMMO_GENOMICS | ss5222329038 | Apr 27, 2021 (155) |
| 133 | EVA | ss5237575256 | Apr 27, 2021 (155) |
| 134 | 1000G_HIGH_COVERAGE | ss5303069360 | Oct 16, 2022 (156) |
| 135 | EVA | ss5315885646 | Oct 16, 2022 (156) |
| 136 | HUGCELL_USP | ss5496133412 | Oct 16, 2022 (156) |
| 137 | EVA | ss5511761868 | Oct 16, 2022 (156) |
| 138 | 1000G_HIGH_COVERAGE | ss5606759422 | Oct 16, 2022 (156) |
| 139 | SANFORD_IMAGENETICS | ss5624396799 | Oct 16, 2022 (156) |
| 140 | SANFORD_IMAGENETICS | ss5660068660 | Oct 16, 2022 (156) |
| 141 | TOMMO_GENOMICS | ss5778508408 | Oct 16, 2022 (156) |
| 142 | EVA | ss5799975194 | Oct 16, 2022 (156) |
| 143 | YY_MCH | ss5816528480 | Oct 16, 2022 (156) |
| 144 | EVA | ss5833958622 | Oct 16, 2022 (156) |
| 145 | EVA | ss5847474492 | Oct 16, 2022 (156) |
| 146 | EVA | ss5847796313 | Oct 16, 2022 (156) |
| 147 | EVA | ss5851802037 | Oct 16, 2022 (156) |
| 148 | EVA | ss5913887402 | Oct 16, 2022 (156) |
| 149 | EVA | ss5951462074 | Oct 16, 2022 (156) |
| 150 | EVA | ss5979506346 | Oct 16, 2022 (156) |
| 151 | 1000Genomes | NC_000017.10 - 38040763 | Oct 12, 2018 (152) |
| 152 | 1000Genomes_30x | NC_000017.11 - 39884510 | Oct 16, 2022 (156) |
| 153 | The Avon Longitudinal Study of Parents and Children | NC_000017.10 - 38040763 | Oct 12, 2018 (152) |
| 154 | Chileans | NC_000017.10 - 38040763 | Apr 27, 2020 (154) |
| 155 | Genome-wide autozygosity in Daghestan | NC_000017.9 - 35294289 | Apr 27, 2020 (154) |
| 156 | Genetic variation in the Estonian population | NC_000017.10 - 38040763 | Oct 12, 2018 (152) |
| 157 | The Danish reference pan genome | NC_000017.10 - 38040763 | Apr 27, 2020 (154) |
| 158 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 159 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 160 | Genome of the Netherlands Release 5 | NC_000017.10 - 38040763 | Apr 27, 2020 (154) |
| 161 | HGDP-CEPH-db Supplement 1 | NC_000017.9 - 35294289 | Apr 27, 2020 (154) |
| 162 | HapMap | NC_000017.11 - 39884510 | Apr 27, 2020 (154) |
| 163 | KOREAN population from KRGDB | NC_000017.10 - 38040763 | Apr 27, 2020 (154) |
| 164 | Northern Sweden | NC_000017.10 - 38040763 | Jul 13, 2019 (153) |
| 165 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000017.10 - 38040763 | Apr 27, 2021 (155) |
| 166 | CNV burdens in cranial meningiomas | NC_000017.10 - 38040763 | Apr 27, 2021 (155) |
| 167 | Qatari | NC_000017.10 - 38040763 | Apr 27, 2020 (154) |
| 168 | SGDP_PRJ | NC_000017.10 - 38040763 | Apr 27, 2020 (154) |
| 169 | Siberian | NC_000017.10 - 38040763 | Apr 27, 2020 (154) |
| 170 | 8.3KJPN | NC_000017.10 - 38040763 | Apr 27, 2021 (155) |
| 171 | 14KJPN | NC_000017.11 - 39884510 | Oct 16, 2022 (156) |
| 172 | TopMed | NC_000017.11 - 39884510 | Apr 27, 2021 (155) |
| 173 | UK 10K study - Twins | NC_000017.10 - 38040763 | Oct 12, 2018 (152) |
| 174 | A Vietnamese Genetic Variation Database | NC_000017.10 - 38040763 | Jul 13, 2019 (153) |
| 175 | ALFA | NC_000017.11 - 39884510 | Apr 27, 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) |
|---|---|
| rs17305854 | Oct 08, 2004 (123) |
| rs60658931 | May 26, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 200042, 241596, ss90584905, ss109756272, ss113519693, ss169578546, ss171373270, ss202495551, ss207875189, ss282760343, ss287178460, ss292047989, ss480702301, ss1397730157, ss1697132893, ss1713581412, ss2094894741, ss3639089722, ss3639853420, ss3643138622, ss3643902850, ss3847563704 | NC_000017.9:35294288:G:A | NC_000017.11:39884509:G:A | (self) |
| 71821738, 39808639, 181086, 28133582, 4353692, 17743801, 42567118, 15296376, 1016193, 272375, 18592208, 37730708, 10037989, 80298345, 39808639, 8810750, ss227541330, ss237238582, ss243538348, ss480717924, ss481588212, ss485145954, ss491521384, ss537142475, ss565263133, ss661065042, ss778882970, ss780684052, ss783019261, ss783357479, ss783979246, ss832276757, ss832931188, ss834343995, ss993090808, ss1081047278, ss1358582630, ss1428028924, ss1578151039, ss1635616886, ss1678610919, ss1752224231, ss1752224232, ss1808775074, ss1917917816, ss1936550286, ss1946444911, ss1968386801, ss2029052989, ss2095073978, ss2095073979, ss2157521635, ss2629022191, ss2633394794, ss2702083090, ss2949661435, ss2985094307, ss2985730849, ss3015504489, ss3021777069, ss3021777070, ss3351738951, ss3627664815, ss3627664816, ss3631376083, ss3633141006, ss3633848477, ss3634673894, ss3634673895, ss3635536253, ss3636363949, ss3637287794, ss3638160021, ss3640381207, ss3640381208, ss3641080656, ss3641376143, ss3644687253, ss3652192508, ss3652192509, ss3652192510, ss3653866064, ss3682395334, ss3742011511, ss3744443099, ss3744974194, ss3744974195, ss3754646396, ss3772472092, ss3772472093, ss3834858822, ss3841039340, ss3885713728, ss3935389724, ss3984722830, ss3985790266, ss5222329038, ss5237575256, ss5315885646, ss5511761868, ss5624396799, ss5660068660, ss5799975194, ss5833958622, ss5847474492, ss5847796313, ss5951462074, ss5979506346 | NC_000017.10:38040762:G:A | NC_000017.11:39884509:G:A | (self) |
| 94285357, 1485597, 112345512, 250903829, 5551636253, ss2216700465, ss3028346747, ss3650650724, ss3700430594, ss3725618996, ss3819917424, ss3846536025, ss5035358167, ss5303069360, ss5496133412, ss5606759422, ss5778508408, ss5816528480, ss5851802037, ss5913887402 | NC_000017.11:39884509:G:A | NC_000017.11:39884509:G:A | (self) |
| ss21411968 | NT_010755.14:1765058:G:A | NC_000017.11:39884509:G:A | (self) |
| ss4062650, ss5900669, ss24535231, ss44021573, ss66434562, ss67280275, ss67682271, ss68214186, ss70758788, ss71332335, ss75781756, ss76210113, ss84111791, ss96545176, ss136572653, ss137064828, ss154242799, ss159419535, ss160593446, ss172823902, ss173516530, ss410926847 | NT_010783.15:3314914:G:A | NC_000017.11:39884509:G:A | (self) |
| 5551636253 | NC_000017.11:39884509:G:T | NC_000017.11:39884509:G:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
45
citations for rs2872507
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18587394 | Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. | Barrett JC et al. | 2008 | Nature genetics |
| 19068216 | Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. | Anderson CA et al. | 2009 | Gastroenterology |
| 19264973 | Assessing the reproducibility of asthma candidate gene associations, using genome-wide data. | Rogers AJ et al. | 2009 | American journal of respiratory and critical care medicine |
| 19474294 | Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. | Hindorff LA et al. | 2009 | Proceedings of the National Academy of Sciences of the United States of America |
| 19732864 | Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. | Verlaan DJ et al. | 2009 | American journal of human genetics |
| 19915574 | Common variants at five new loci associated with early-onset inflammatory bowel disease. | Imielinski M et al. | 2009 | Nature genetics |
| 20228799 | Genome-wide association identifies multiple ulcerative colitis susceptibility loci. | McGovern DP et al. | 2010 | Nature genetics |
| 20369022 | Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. | Nica AC et al. | 2010 | PLoS genetics |
| 20372189 | A sequence variant on 17q21 is associated with age at onset and severity of asthma. | Halapi E et al. | 2010 | European journal of human genetics |
| 20453842 | Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. | Stahl EA et al. | 2010 | Nature genetics |
| 20570966 | Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. | McGovern DP et al. | 2010 | Human molecular genetics |
| 20805105 | Synthetic associations in the context of genome-wide association scan signals. | Orozco G et al. | 2010 | Human molecular genetics |
| 20833654 | Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes. | Murphy A et al. | 2010 | Human molecular genetics |
| 20923970 | Bayesian epistasis association mapping via SNP imputation. | Zhang Y et al. | 2011 | Biostatistics (Oxford, England) |
| 20933377 | Recent findings on genetics of systemic autoimmune diseases. | Delgado-Vega A et al. | 2010 | Current opinion in immunology |
| 21072187 | Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis. | Laukens D et al. | 2010 | PloS one |
| 21102463 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. | Franke A et al. | 2010 | Nature genetics |
| 21217814 | Presymptomatic risk assessment for chronic non-communicable diseases. | Padhukasahasram B et al. | 2010 | PloS one |
| 21297633 | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. | Anderson CA et al. | 2011 | Nature genetics |
| 21304977 | An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians. | Juyal G et al. | 2011 | PloS one |
| 21487504 | Immunopathogenesis of inflammatory bowel disease. | Matricon J et al. | 2010 | Self/nonself |
| 21730793 | Influence of Crohn's disease risk alleles and smoking on disease location. | Chen H et al. | 2011 | Diseases of the colon and rectum |
| 21752155 | Genetic susceptibility to inflammation and colonic transit in lower functional gastrointestinal disorders: preliminary analysis. | Camilleri M et al. | 2011 | Neurogastroenterology and motility |
| 21852963 | Pervasive sharing of genetic effects in autoimmune disease. | Cotsapas C et al. | 2011 | PLoS genetics |
| 22190364 | Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. | Patsopoulos NA et al. | 2011 | Annals of neurology |
| 22294642 | Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. | Hinks A et al. | 2012 | Annals of the rheumatic diseases |
| 22365150 | Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12. | Kurreeman FA et al. | 2012 | American journal of human genetics |
| 22544929 | IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells. | Hedl M et al. | 2012 | Journal of immunology (Baltimore, Md. |
| 22694930 | Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases. | Li X et al. | 2012 | The Journal of allergy and clinical immunology |
| 22986918 | Association among ORMDL3 gene expression, 17q21 polymorphism and response to treatment with inhaled corticosteroids in children with asthma. | Berce V et al. | 2013 | The pharmacogenomics journal |
| 23028907 | Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci. | Fransen K et al. | 2012 | PloS one |
| 23300620 | Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms. | Jung C et al. | 2012 | PloS one |
| 23912588 | Pharmacogenetics and the development of personalized approaches for combination therapy in asthma. | Miller SM et al. | 2013 | Current allergy and asthma reports |
| 24956270 | Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. | Narahara M et al. | 2014 | PloS one |
| 25271777 | Association between polymorphisms of the IKZF3 gene and systemic lupus erythematosus in a Chinese Han population. | Cai X et al. | 2014 | PloS one |
| 26484354 | Gene Expression-Genotype Analysis Implicates GSDMA, GSDMB, and LRRC3C as Contributors to Inflammatory Bowel Disease Susceptibility. | Söderman J et al. | 2015 | BioMed research international |
| 26843965 | Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis. | Saad MN et al. | 2016 | Journal of advanced research |
| 27153721 | Haplotype synthesis analysis reveals functional variants underlying known genome-wide associated susceptibility loci. | Lacour A et al. | 2016 | Bioinformatics (Oxford, England) |
| 27336838 | Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci. | Di Narzo AF et al. | 2016 | Clinical and translational gastroenterology |
| 27417569 | Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases. | Bek S et al. | 2016 | Alimentary pharmacology & therapeutics |
| 29343548 | Loss of B-Cell Anergy in Type 1 Diabetes Is Associated With High-Risk HLA and Non-HLA Disease Susceptibility Alleles. | Smith MJ et al. | 2018 | Diabetes |
| 29510406 | Polymorphisms of IKZF3 Gene and Autoimmune Thyroid Diseases: Associated with Graves' Disease but Not with Hashimoto's Thyroiditis. | Li L et al. | 2018 | Cellular physiology and biochemistry |
| 29967744 | Association of Crohn's disease-related chromosome 1q32 with ankylosing spondylitis is independent of bowel symptoms and faecal calprotectin. | Roberts RL et al. | 2018 | PeerJ |
| 30647901 | Genetic associations of the response to inhaled corticosteroids in asthma: a systematic review. | Keskin O et al. | 2019 | Clinical and translational allergy |
| 35088123 | Genetics of rheumatoid arthritis. | Padyukov L et al. | 2022 | Seminars in immunopathology |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.