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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2844486

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:31566093 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.358699 (94944/264690, TOPMED)
A=0.353748 (49357/139526, GnomAD)
A=0.41506 (11728/28256, 14KJPN) (+ 14 more)
A=0.39387 (7033/17856, ALFA)
A=0.41689 (6987/16760, 8.3KJPN)
A=0.3499 (2241/6404, 1000G_30x)
A=0.3494 (1750/5008, 1000G)
A=0.4279 (1916/4478, Estonian)
A=0.3718 (1433/3854, ALSPAC)
A=0.3730 (1383/3708, TWINSUK)
A=0.3273 (959/2930, KOREAN)
A=0.387 (386/998, GoNL)
A=0.347 (208/600, NorthernSweden)
A=0.227 (104/458, SGDP_PRJ)
A=0.273 (59/216, Qatari)
A=0.28 (13/46, Siberian)
A=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LTA : Intron Variant
LOC100287329 : Intron Variant
Publications
2 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 17856 A=0.39387 C=0.00000, G=0.60613, T=0.00000
European Sub 13752 A=0.41419 C=0.00000, G=0.58581, T=0.00000
African Sub 2450 A=0.2878 C=0.0000, G=0.7122, T=0.0000
African Others Sub 92 A=0.25 C=0.00, G=0.75, T=0.00
African American Sub 2358 A=0.2892 C=0.0000, G=0.7108, T=0.0000
Asian Sub 112 A=0.312 C=0.000, G=0.688, T=0.000
East Asian Sub 86 A=0.30 C=0.00, G=0.70, T=0.00
Other Asian Sub 26 A=0.35 C=0.00, G=0.65, T=0.00
Latin American 1 Sub 146 A=0.308 C=0.000, G=0.692, T=0.000
Latin American 2 Sub 610 A=0.428 C=0.000, G=0.572, T=0.000
South Asian Sub 98 A=0.36 C=0.00, G=0.64, T=0.00
Other Sub 688 A=0.372 C=0.000, G=0.628, T=0.000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.358699 G=0.641301
gnomAD - Genomes Global Study-wide 139526 A=0.353748 G=0.646252
gnomAD - Genomes European Sub 75622 A=0.38925 G=0.61075
gnomAD - Genomes African Sub 41740 A=0.26301 G=0.73699
gnomAD - Genomes American Sub 13580 A=0.41811 G=0.58189
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.4639 G=0.5361
gnomAD - Genomes East Asian Sub 3120 A=0.3045 G=0.6955
gnomAD - Genomes Other Sub 2144 A=0.3615 G=0.6385
14KJPN JAPANESE Study-wide 28256 A=0.41506 G=0.58494
Allele Frequency Aggregator Total Global 17856 A=0.39387 C=0.00000, G=0.60613, T=0.00000
Allele Frequency Aggregator European Sub 13752 A=0.41419 C=0.00000, G=0.58581, T=0.00000
Allele Frequency Aggregator African Sub 2450 A=0.2878 C=0.0000, G=0.7122, T=0.0000
Allele Frequency Aggregator Other Sub 688 A=0.372 C=0.000, G=0.628, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.428 C=0.000, G=0.572, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.308 C=0.000, G=0.692, T=0.000
Allele Frequency Aggregator Asian Sub 112 A=0.312 C=0.000, G=0.688, T=0.000
Allele Frequency Aggregator South Asian Sub 98 A=0.36 C=0.00, G=0.64, T=0.00
8.3KJPN JAPANESE Study-wide 16760 A=0.41689 G=0.58311
1000Genomes_30x Global Study-wide 6404 A=0.3499 G=0.6501
1000Genomes_30x African Sub 1786 A=0.2766 G=0.7234
1000Genomes_30x Europe Sub 1266 A=0.4155 G=0.5845
1000Genomes_30x South Asian Sub 1202 A=0.3819 G=0.6181
1000Genomes_30x East Asian Sub 1170 A=0.3256 G=0.6744
1000Genomes_30x American Sub 980 A=0.389 G=0.611
1000Genomes Global Study-wide 5008 A=0.3494 G=0.6506
1000Genomes African Sub 1322 A=0.2670 G=0.7330
1000Genomes East Asian Sub 1008 A=0.3353 G=0.6647
1000Genomes Europe Sub 1006 A=0.4046 G=0.5954
1000Genomes South Asian Sub 978 A=0.390 G=0.610
1000Genomes American Sub 694 A=0.390 G=0.610
Genetic variation in the Estonian population Estonian Study-wide 4478 A=0.4279 G=0.5721
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3718 G=0.6282
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3730 G=0.6270
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3273 G=0.6727, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.387 G=0.613
Northern Sweden ACPOP Study-wide 600 A=0.347 G=0.653
SGDP_PRJ Global Study-wide 458 A=0.227 G=0.773
Qatari Global Study-wide 216 A=0.273 G=0.727
Siberian Global Study-wide 46 A=0.28 G=0.72
The Danish reference pan genome Danish Study-wide 40 A=0.40 G=0.60
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.31566093A>C
GRCh38.p14 chr 6 NC_000006.12:g.31566093A>G
GRCh38.p14 chr 6 NC_000006.12:g.31566093A>T
GRCh37.p13 chr 6 NC_000006.11:g.31533870A>C
GRCh37.p13 chr 6 NC_000006.11:g.31533870A>G
GRCh37.p13 chr 6 NC_000006.11:g.31533870A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3043402G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3043402G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3043402G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3043508G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3043508G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3043508G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2821934G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2821934G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2821934G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2827530G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2827530G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2827530G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2813846G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2813846G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2813846G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2819431G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2819431G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2819431G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2865374A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2865374A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2865374A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2864672A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2864672A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2864672A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2871140A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2871140A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2871140A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2876760A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2876760A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2876760A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2908015G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2908015G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2908015G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2913600G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2913600G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2913600G>T
Gene: LTA, lymphotoxin alpha (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LTA transcript variant 2 NM_000595.4:c. N/A Genic Upstream Transcript Variant
LTA transcript variant 1 NM_001159740.2:c. N/A Genic Upstream Transcript Variant
LTA transcript variant X1 XM_047418773.1:c.-342+482…

XM_047418773.1:c.-342+4824A>C

 		N/A Intron Variant
Gene: LOC100287329, uncharacterized LOC100287329 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100287329 transcript NR_149045.1:n. 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 A= C G T
GRCh38.p14 chr 6 NC_000006.12:g.31566093= NC_000006.12:g.31566093A>C NC_000006.12:g.31566093A>G NC_000006.12:g.31566093A>T
GRCh37.p13 chr 6 NC_000006.11:g.31533870= NC_000006.11:g.31533870A>C NC_000006.11:g.31533870A>G NC_000006.11:g.31533870A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3043402G>A NT_113891.3:g.3043402G>C NT_113891.3:g.3043402= NT_113891.3:g.3043402G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3043508G>A NT_113891.2:g.3043508G>C NT_113891.2:g.3043508= NT_113891.2:g.3043508G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2821934G>A NT_167248.2:g.2821934G>C NT_167248.2:g.2821934= NT_167248.2:g.2821934G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2827530G>A NT_167248.1:g.2827530G>C NT_167248.1:g.2827530= NT_167248.1:g.2827530G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2813846G>A NT_167245.2:g.2813846G>C NT_167245.2:g.2813846= NT_167245.2:g.2813846G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2819431G>A NT_167245.1:g.2819431G>C NT_167245.1:g.2819431= NT_167245.1:g.2819431G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2865374= NT_167249.2:g.2865374A>C NT_167249.2:g.2865374A>G NT_167249.2:g.2865374A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2864672= NT_167249.1:g.2864672A>C NT_167249.1:g.2864672A>G NT_167249.1:g.2864672A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2871140= NT_167246.2:g.2871140A>C NT_167246.2:g.2871140A>G NT_167246.2:g.2871140A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2876760= NT_167246.1:g.2876760A>C NT_167246.1:g.2876760A>G NT_167246.1:g.2876760A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2908015G>A NT_167247.2:g.2908015G>C NT_167247.2:g.2908015= NT_167247.2:g.2908015G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2913600G>A NT_167247.1:g.2913600G>C NT_167247.1:g.2913600= NT_167247.1:g.2913600G>T
LTA transcript variant X1 XM_047418773.1:c.-342+4824= XM_047418773.1:c.-342+4824A>C XM_047418773.1:c.-342+4824A>G XM_047418773.1:c.-342+4824A>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#.

70 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4027250 Sep 28, 2001 (100)
2 WI_SSAHASNP ss11807153 Jul 11, 2003 (117)
3 SI_MHC_SNP ss12691477 Oct 31, 2003 (118)
4 CSHL-HAPMAP ss19662497 Feb 27, 2004 (120)
5 ABI ss42663934 Mar 14, 2006 (126)
6 HGSV ss79050600 Dec 07, 2007 (129)
7 HGSV ss83345307 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss93436489 Mar 24, 2008 (129)
9 BGI ss105991198 Feb 05, 2009 (130)
10 GMI ss156747612 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss162198717 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss163348301 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss166429091 Jul 04, 2010 (132)
14 BUSHMAN ss201625914 Jul 04, 2010 (132)
15 BL ss254187311 May 09, 2011 (137)
16 GMI ss278727059 May 04, 2012 (137)
17 GMI ss285374147 Apr 25, 2013 (138)
18 PJP ss293825963 May 09, 2011 (137)
19 1000GENOMES ss333184376 May 09, 2011 (137)
20 TISHKOFF ss559114300 Apr 25, 2013 (138)
21 SSMP ss653035537 Apr 25, 2013 (138)
22 EVA-GONL ss982766344 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1073505991 Aug 21, 2014 (142)
24 1000GENOMES ss1319558635 Aug 21, 2014 (142)
25 EVA_GENOME_DK ss1581606786 Apr 01, 2015 (144)
26 EVA_DECODE ss1592310239 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1615277871 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1658271904 Apr 01, 2015 (144)
29 HAMMER_LAB ss1804358337 Sep 08, 2015 (146)
30 WEILL_CORNELL_DGM ss1926018720 Feb 12, 2016 (147)
31 GENOMED ss1970357567 Jul 19, 2016 (147)
32 JJLAB ss2023642534 Sep 14, 2016 (149)
33 USC_VALOUEV ss2151808968 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2282945774 Dec 20, 2016 (150)
35 SYSTEMSBIOZJU ss2626308706 Nov 08, 2017 (151)
36 GRF ss2707402767 Nov 08, 2017 (151)
37 SWEGEN ss2998796369 Nov 08, 2017 (151)
38 BIOINF_KMB_FNS_UNIBA ss3025608410 Nov 08, 2017 (151)
39 EGCUT_WGS ss3666710702 Jul 13, 2019 (153)
40 EVA_DECODE ss3716909084 Jul 13, 2019 (153)
41 ACPOP ss3733362047 Jul 13, 2019 (153)
42 EVA ss3764822909 Jul 13, 2019 (153)
43 PACBIO ss3785425740 Jul 13, 2019 (153)
44 PACBIO ss3790785152 Jul 13, 2019 (153)
45 PACBIO ss3795662670 Jul 13, 2019 (153)
46 KHV_HUMAN_GENOMES ss3807978168 Jul 13, 2019 (153)
47 EVA ss3829833018 Apr 26, 2020 (154)
48 EVA ss3838394862 Apr 26, 2020 (154)
49 EVA ss3843837045 Apr 26, 2020 (154)
50 SGDP_PRJ ss3864255461 Apr 26, 2020 (154)
51 KRGDB ss3911030358 Apr 26, 2020 (154)
52 VINODS ss4025188682 Apr 26, 2021 (155)
53 VINODS ss4025209364 Apr 26, 2021 (155)
54 VINODS ss4025248107 Apr 26, 2021 (155)
55 VINODS ss4025266752 Apr 26, 2021 (155)
56 TOPMED ss4698392650 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5176837687 Apr 26, 2021 (155)
58 1000G_HIGH_COVERAGE ss5267937267 Oct 17, 2022 (156)
59 EVA ss5364723345 Oct 17, 2022 (156)
60 HUGCELL_USP ss5465671264 Oct 17, 2022 (156)
61 EVA ss5508428605 Oct 17, 2022 (156)
62 1000G_HIGH_COVERAGE ss5553593677 Oct 17, 2022 (156)
63 SANFORD_IMAGENETICS ss5640090036 Oct 17, 2022 (156)
64 TOMMO_GENOMICS ss5714692717 Oct 17, 2022 (156)
65 YY_MCH ss5807307877 Oct 17, 2022 (156)
66 EVA ss5842027435 Oct 17, 2022 (156)
67 EVA ss5855284109 Oct 17, 2022 (156)
68 EVA ss5883244535 Oct 17, 2022 (156)
69 EVA ss5968591869 Oct 17, 2022 (156)
70 EVA ss5980356714 Oct 17, 2022 (156)
71 1000Genomes NC_000006.11 - 31533870 Oct 12, 2018 (152)
72 1000Genomes_30x NC_000006.12 - 31566093 Oct 17, 2022 (156)
73 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 31533870 Oct 12, 2018 (152)
74 Genetic variation in the Estonian population NC_000006.11 - 31533870 Oct 12, 2018 (152)
75 The Danish reference pan genome NC_000006.11 - 31533870 Apr 26, 2020 (154)
76 gnomAD - Genomes NC_000006.12 - 31566093 Apr 26, 2021 (155)
77 Genome of the Netherlands Release 5 NC_000006.11 - 31533870 Apr 26, 2020 (154)
78 KOREAN population from KRGDB NC_000006.11 - 31533870 Apr 26, 2020 (154)
79 Northern Sweden NC_000006.11 - 31533870 Jul 13, 2019 (153)
80 Qatari NC_000006.11 - 31533870 Apr 26, 2020 (154)
81 SGDP_PRJ NC_000006.11 - 31533870 Apr 26, 2020 (154)
82 Siberian NC_000006.11 - 31533870 Apr 26, 2020 (154)
83 8.3KJPN NC_000006.11 - 31533870 Apr 26, 2021 (155)
84 14KJPN NC_000006.12 - 31566093 Oct 17, 2022 (156)
85 TopMed NC_000006.12 - 31566093 Apr 26, 2021 (155)
86 UK 10K study - Twins NC_000006.11 - 31533870 Oct 12, 2018 (152)
87 ALFA NC_000006.12 - 31566093 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)
rs7757849 Aug 27, 2003 (117)
rs59833002 May 25, 2008 (130)
rs138528681 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
12421964328 NC_000006.12:31566092:A:C NC_000006.12:31566092:A:C (self)
ss79050600, ss83345307 NC_000006.9:31641848:A:G NC_000006.12:31566092:A:G (self)
ss93436489, ss162198717, ss163348301, ss166429091, ss201625914, ss254187311, ss278727059, ss285374147, ss293825963, ss1592310239 NC_000006.10:31641848:A:G NC_000006.12:31566092:A:G (self)
31326079, 17467401, 12448950, 7771725, 7765118, 18207752, 6646912, 8060650, 16272441, 4325322, 34806994, 17467401, ss333184376, ss559114300, ss653035537, ss982766344, ss1073505991, ss1319558635, ss1581606786, ss1615277871, ss1658271904, ss1804358337, ss1926018720, ss1970357567, ss2023642534, ss2151808968, ss2626308706, ss2707402767, ss2998796369, ss3666710702, ss3733362047, ss3764822909, ss3785425740, ss3790785152, ss3795662670, ss3829833018, ss3838394862, ss3864255461, ss3911030358, ss5176837687, ss5364723345, ss5508428605, ss5640090036, ss5842027435, ss5968591869, ss5980356714 NC_000006.11:31533869:A:G NC_000006.12:31566092:A:G (self)
41119612, 221219675, 48529821, 535770208, 12421964328, ss2282945774, ss3025608410, ss3716909084, ss3807978168, ss3843837045, ss4698392650, ss5267937267, ss5465671264, ss5553593677, ss5714692717, ss5807307877, ss5855284109, ss5883244535 NC_000006.12:31566092:A:G NC_000006.12:31566092:A:G (self)
ss11807153, ss19662497 NT_007592.13:22388454:A:G NC_000006.12:31566092:A:G (self)
ss4027250, ss12691477, ss42663934, ss105991198, ss156747612 NT_007592.15:31473869:A:G NC_000006.12:31566092:A:G (self)
ss4025188682 NT_113891.3:3043401:G:G NC_000006.12:31566092:A:G (self)
ss4025209364 NT_167245.2:2813845:G:G NC_000006.12:31566092:A:G (self)
ss4025248107 NT_167247.2:2908014:G:G NC_000006.12:31566092:A:G (self)
ss4025266752 NT_167248.2:2821933:G:G NC_000006.12:31566092:A:G (self)
18207752, ss3911030358 NC_000006.11:31533869:A:T NC_000006.12:31566092:A:T (self)
12421964328 NC_000006.12:31566092:A:T NC_000006.12:31566092:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs2844486
PMID Title Author Year Journal
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
21029472 A study of the TNF/LTA/LTB locus and susceptibility to severe malaria in highland papuan children and adults. Randall LM et al. 2010 Malaria journal
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.

Software version is: 2.0.1.post761+d5e8e07