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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.

rs1049068

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32665000 (GRCh38.p14) Help

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

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.157416 (30352/192814, GnomAD_exome)
T=0.121171 (15379/126920, GnomAD)
T=0.134251 (14186/105668, ExAC) (+ 14 more)
T=0.06441 (1820/28256, 14KJPN)
T=0.06527 (1094/16760, 8.3KJPN)
T=0.10161 (1667/16406, ALFA)
T=0.12622 (1603/12700, GO-ESP)
T=0.0882 (565/6404, 1000G_30x)
T=0.0946 (474/5008, 1000G)
T=0.1056 (473/4480, Estonian)
T=0.1064 (311/2922, KOREAN)
T=0.2599 (327/1258, Korea1K)
T=0.160 (96/600, NorthernSweden)
T=0.124 (66/534, MGP)
T=0.154 (29/188, Qatari)
C=0.48 (44/92, SGDP_PRJ)
C=0.44 (7/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HLA-DQB1 : Synonymous Variant
Publications
0 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 16406 C=0.89839 T=0.10161
European Sub 12130 C=0.89547 T=0.10453
African Sub 2830 C=0.9025 T=0.0975
African Others Sub 108 C=0.981 T=0.019
African American Sub 2722 C=0.8993 T=0.1007
Asian Sub 108 C=0.972 T=0.028
East Asian Sub 84 C=0.96 T=0.04
Other Asian Sub 24 C=1.00 T=0.00
Latin American 1 Sub 146 C=0.884 T=0.116
Latin American 2 Sub 610 C=0.908 T=0.092
South Asian Sub 94 C=0.94 T=0.06
Other Sub 488 C=0.916 T=0.084


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
gnomAD - Exomes Global Study-wide 192814 C=0.842584 T=0.157416
gnomAD - Exomes European Sub 109394 C=0.829378 T=0.170622
gnomAD - Exomes Asian Sub 34108 C=0.85625 T=0.14375
gnomAD - Exomes American Sub 25512 C=0.89950 T=0.10050
gnomAD - Exomes African Sub 11008 C=0.83948 T=0.16052
gnomAD - Exomes Ashkenazi Jewish Sub 8402 C=0.8079 T=0.1921
gnomAD - Exomes Other Sub 4390 C=0.8089 T=0.1911
gnomAD - Genomes Global Study-wide 126920 C=0.878829 T=0.121171
gnomAD - Genomes European Sub 69134 C=0.86920 T=0.13080
gnomAD - Genomes African Sub 37194 C=0.89305 T=0.10695
gnomAD - Genomes American Sub 12574 C=0.87800 T=0.12200
gnomAD - Genomes Ashkenazi Jewish Sub 3128 C=0.8504 T=0.1496
gnomAD - Genomes East Asian Sub 3018 C=0.9616 T=0.0384
gnomAD - Genomes Other Sub 1872 C=0.8718 T=0.1282
ExAC Global Study-wide 105668 C=0.865749 T=0.134251
ExAC Europe Sub 64010 C=0.84215 T=0.15785
ExAC Asian Sub 22354 C=0.89792 T=0.10208
ExAC American Sub 10556 C=0.93890 T=0.06110
ExAC African Sub 7956 C=0.8679 T=0.1321
ExAC Other Sub 792 C=0.869 T=0.131
14KJPN JAPANESE Study-wide 28256 C=0.93559 T=0.06441
8.3KJPN JAPANESE Study-wide 16760 C=0.93473 T=0.06527
Allele Frequency Aggregator Total Global 16406 C=0.89839 T=0.10161
Allele Frequency Aggregator European Sub 12130 C=0.89547 T=0.10453
Allele Frequency Aggregator African Sub 2830 C=0.9025 T=0.0975
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.908 T=0.092
Allele Frequency Aggregator Other Sub 488 C=0.916 T=0.084
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.884 T=0.116
Allele Frequency Aggregator Asian Sub 108 C=0.972 T=0.028
Allele Frequency Aggregator South Asian Sub 94 C=0.94 T=0.06
GO Exome Sequencing Project Global Study-wide 12700 C=0.87378 T=0.12622
GO Exome Sequencing Project European American Sub 8438 C=0.8661 T=0.1339
GO Exome Sequencing Project African American Sub 4262 C=0.8890 T=0.1110
1000Genomes_30x Global Study-wide 6404 C=0.9118 T=0.0882
1000Genomes_30x African Sub 1786 C=0.9054 T=0.0946
1000Genomes_30x Europe Sub 1266 C=0.8870 T=0.1130
1000Genomes_30x South Asian Sub 1202 C=0.8952 T=0.1048
1000Genomes_30x East Asian Sub 1170 C=0.9641 T=0.0359
1000Genomes_30x American Sub 980 C=0.913 T=0.087
1000Genomes Global Study-wide 5008 C=0.9054 T=0.0946
1000Genomes African Sub 1322 C=0.8956 T=0.1044
1000Genomes East Asian Sub 1008 C=0.9573 T=0.0427
1000Genomes Europe Sub 1006 C=0.8767 T=0.1233
1000Genomes South Asian Sub 978 C=0.892 T=0.108
1000Genomes American Sub 694 C=0.909 T=0.091
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8944 T=0.1056
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.8936 T=0.1064
Korean Genome Project KOREAN Study-wide 1258 C=0.7401 T=0.2599
Northern Sweden ACPOP Study-wide 600 C=0.840 T=0.160
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.876 T=0.124
Qatari Global Study-wide 188 C=0.846 T=0.154
SGDP_PRJ Global Study-wide 92 C=0.48 T=0.52
Siberian Global Study-wide 16 C=0.44 T=0.56
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.32665000C>A
GRCh38.p14 chr 6 NC_000006.12:g.32665000C>T
GRCh37.p13 chr 6 NC_000006.11:g.32632777C>A
GRCh37.p13 chr 6 NC_000006.11:g.32632777C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4078312C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4078312C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4078418C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4078418C>T
HLA-DQB1 RefSeqGene NG_029922.1:g.6694G>T
HLA-DQB1 RefSeqGene NG_029922.1:g.6694G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3859276C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3859276C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3864872C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3864872C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3905835C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3905835C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3911420C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3911420C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4062238C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4062238C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4061536C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4061536C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4082818C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4082818C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4088438C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4088438C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3961478C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3961478C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3967063C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3967063C>T
Gene: HLA-DQB1, major histocompatibility complex, class II, DQ beta 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HLA-DQB1 transcript variant 2 NM_001243961.2:c.177G>T V [GTG] > V [GTT] Coding Sequence Variant
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 2 precursor NP_001230890.1:p.Val59= V (Val) > V (Val) Synonymous Variant
HLA-DQB1 transcript variant 2 NM_001243961.2:c.177G>A V [GTG] > V [GTA] Coding Sequence Variant
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 2 precursor NP_001230890.1:p.Val59= V (Val) > V (Val) Synonymous Variant
HLA-DQB1 transcript variant 1 NM_002123.5:c.177G>T V [GTG] > V [GTT] Coding Sequence Variant
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor NP_002114.3:p.Val59= V (Val) > V (Val) Synonymous Variant
HLA-DQB1 transcript variant 1 NM_002123.5:c.177G>A V [GTG] > V [GTA] Coding Sequence Variant
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor NP_002114.3:p.Val59= V (Val) > V (Val) Synonymous 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 C= A T
GRCh38.p14 chr 6 NC_000006.12:g.32665000= NC_000006.12:g.32665000C>A NC_000006.12:g.32665000C>T
GRCh37.p13 chr 6 NC_000006.11:g.32632777= NC_000006.11:g.32632777C>A NC_000006.11:g.32632777C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4078312= NT_113891.3:g.4078312C>A NT_113891.3:g.4078312C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4078418= NT_113891.2:g.4078418C>A NT_113891.2:g.4078418C>T
HLA-DQB1 RefSeqGene NG_029922.1:g.6694= NG_029922.1:g.6694G>T NG_029922.1:g.6694G>A
HLA-DQB1 transcript variant 1 NM_002123.5:c.177= NM_002123.5:c.177G>T NM_002123.5:c.177G>A
HLA-DQB1 transcript variant 1 NM_002123.4:c.177= NM_002123.4:c.177G>T NM_002123.4:c.177G>A
HLA-DQB1 transcript variant 2 NM_001243961.2:c.177= NM_001243961.2:c.177G>T NM_001243961.2:c.177G>A
HLA-DQB1 transcript variant 2 NM_001243961.1:c.177= NM_001243961.1:c.177G>T NM_001243961.1:c.177G>A
HLA-DQB1 transcript variant 3 NM_001243962.1:c.177= NM_001243962.1:c.177G>T NM_001243962.1:c.177G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3859276= NT_167248.2:g.3859276C>A NT_167248.2:g.3859276C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3864872= NT_167248.1:g.3864872C>A NT_167248.1:g.3864872C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3905835= NT_167245.2:g.3905835C>A NT_167245.2:g.3905835C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3911420= NT_167245.1:g.3911420C>A NT_167245.1:g.3911420C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4062238= NT_167249.2:g.4062238C>A NT_167249.2:g.4062238C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4061536= NT_167249.1:g.4061536C>A NT_167249.1:g.4061536C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4082818= NT_167246.2:g.4082818C>A NT_167246.2:g.4082818C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4088438= NT_167246.1:g.4088438C>A NT_167246.1:g.4088438C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3961478= NT_167247.2:g.3961478C>A NT_167247.2:g.3961478C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3967063= NT_167247.1:g.3967063C>A NT_167247.1:g.3967063C>T
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor NP_002114.3:p.Val59= NP_002114.3:p.Val59= NP_002114.3:p.Val59=
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 2 precursor NP_001230890.1:p.Val59= NP_001230890.1:p.Val59= NP_001230890.1:p.Val59=
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor NP_001230891.1:p.Val59= NP_001230891.1:p.Val59= NP_001230891.1:p.Val59=
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#.

62 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1522519 Oct 05, 2000 (86)
2 LEE ss4413844 May 29, 2002 (106)
3 UWGC ss50396551 Mar 14, 2006 (126)
4 BCMHGSC_JDW ss93438711 Mar 24, 2008 (129)
5 SEATTLESEQ ss159712281 Dec 01, 2009 (137)
6 BUSHMAN ss201646927 Jul 04, 2010 (132)
7 1000GENOMES ss222316540 Jul 14, 2010 (132)
8 1000GENOMES ss240481036 Jul 15, 2010 (132)
9 1000GENOMES ss490922933 May 04, 2012 (137)
10 CLINSEQ_SNP ss491887008 May 04, 2012 (137)
11 DBMHC ss539204764 Oct 01, 2012 (137)
12 SSMP ss653050354 Apr 25, 2013 (138)
13 NHLBI-ESP ss712702182 Apr 25, 2013 (138)
14 EVA-GONL ss982784112 Aug 21, 2014 (142)
15 1000GENOMES ss1319594956 Aug 21, 2014 (142)
16 DDI ss1430682647 Apr 01, 2015 (144)
17 EVA_EXAC ss1688259150 Apr 01, 2015 (144)
18 EVA_MGP ss1711124149 Apr 01, 2015 (144)
19 HAMMER_LAB ss1804366461 Sep 08, 2015 (146)
20 WEILL_CORNELL_DGM ss1926041336 Feb 12, 2016 (147)
21 JJLAB ss2023654773 Sep 14, 2016 (149)
22 USC_VALOUEV ss2151830122 Dec 20, 2016 (150)
23 SYSTEMSBIOZJU ss2626315088 Nov 08, 2017 (151)
24 GRF ss2707424518 Nov 08, 2017 (151)
25 GNOMAD ss2735693003 Nov 08, 2017 (151)
26 GNOMAD ss2747595186 Nov 08, 2017 (151)
27 GNOMAD ss2837514722 Nov 08, 2017 (151)
28 SWEGEN ss2998837619 Nov 08, 2017 (151)
29 BIOINF_KMB_FNS_UNIBA ss3025617873 Nov 08, 2017 (151)
30 CSHL ss3346902915 Nov 08, 2017 (151)
31 OMUKHERJEE_ADBS ss3646336579 Oct 12, 2018 (152)
32 EGCUT_WGS ss3666727327 Jul 13, 2019 (153)
33 EVA_DECODE ss3716936368 Jul 13, 2019 (153)
34 ACPOP ss3733379104 Jul 13, 2019 (153)
35 EVA ss3764844285 Jul 13, 2019 (153)
36 KHV_HUMAN_GENOMES ss3808000090 Jul 13, 2019 (153)
37 EVA ss3824175119 Apr 26, 2020 (154)
38 SGDP_PRJ ss3864298936 Apr 26, 2020 (154)
39 KRGDB ss3911076920 Apr 26, 2020 (154)
40 KOGIC ss3958760697 Apr 26, 2020 (154)
41 FSA-LAB ss3984334109 Apr 26, 2021 (155)
42 FSA-LAB ss3984334110 Apr 26, 2021 (155)
43 EVA ss3986340703 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5176906733 Apr 26, 2021 (155)
45 EVA ss5237023222 Apr 26, 2021 (155)
46 EVA ss5237190943 Apr 26, 2021 (155)
47 EVA ss5237646302 Oct 17, 2022 (156)
48 1000G_HIGH_COVERAGE ss5267970357 Oct 17, 2022 (156)
49 TRAN_CS_UWATERLOO ss5314416064 Oct 17, 2022 (156)
50 EVA ss5364776078 Oct 17, 2022 (156)
51 1000G_HIGH_COVERAGE ss5553644890 Oct 17, 2022 (156)
52 SANFORD_IMAGENETICS ss5640127599 Oct 17, 2022 (156)
53 TOMMO_GENOMICS ss5714776499 Oct 17, 2022 (156)
54 EVA ss5799427875 Oct 17, 2022 (156)
55 EVA ss5800130104 Oct 17, 2022 (156)
56 YY_MCH ss5807340959 Oct 17, 2022 (156)
57 EVA ss5842048155 Oct 17, 2022 (156)
58 EVA ss5848654641 Oct 17, 2022 (156)
59 EVA ss5855294161 Oct 17, 2022 (156)
60 EVA ss5883275072 Oct 17, 2022 (156)
61 EVA ss5968617649 Oct 17, 2022 (156)
62 EVA ss5981234921 Oct 17, 2022 (156)
63 1000Genomes NC_000006.11 - 32632777 Oct 12, 2018 (152)
64 1000Genomes_30x NC_000006.12 - 32665000 Oct 17, 2022 (156)
65 Genetic variation in the Estonian population NC_000006.11 - 32632777 Oct 12, 2018 (152)
66 ExAC NC_000006.11 - 32632777 Oct 12, 2018 (152)
67 gnomAD - Genomes NC_000006.12 - 32665000 Apr 26, 2021 (155)
68 gnomAD - Exomes NC_000006.11 - 32632777 Jul 13, 2019 (153)
69 GO Exome Sequencing Project NC_000006.11 - 32632777 Oct 12, 2018 (152)
70 KOREAN population from KRGDB NC_000006.11 - 32632777 Apr 26, 2020 (154)
71 Korean Genome Project NC_000006.12 - 32665000 Apr 26, 2020 (154)
72 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 32632777 Apr 26, 2020 (154)
73 Northern Sweden NC_000006.11 - 32632777 Jul 13, 2019 (153)
74 Qatari NC_000006.11 - 32632777 Apr 26, 2020 (154)
75 SGDP_PRJ NC_000006.11 - 32632777 Apr 26, 2020 (154)
76 Siberian NC_000006.11 - 32632777 Apr 26, 2020 (154)
77 8.3KJPN NC_000006.11 - 32632777 Apr 26, 2021 (155)
78 14KJPN NC_000006.12 - 32665000 Oct 17, 2022 (156)
79 ALFA NC_000006.12 - 32665000 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)
rs3189147 Jul 03, 2002 (106)
rs12722117 Sep 24, 2004 (123)
rs16868427 Oct 08, 2004 (123)
rs79502177 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2735693003 NC_000006.11:32632776:C:A NC_000006.12:32664999:C:A (self)
ss50396551, ss93438711, ss201646927, ss491887008 NC_000006.10:32740754:C:T NC_000006.12:32664999:C:T (self)
31363742, 12465575, 8286842, 4834760, 633153, 18254314, 239909, 6663969, 8083266, 16315916, 4346476, 34876040, ss222316540, ss240481036, ss490922933, ss653050354, ss712702182, ss982784112, ss1319594956, ss1430682647, ss1688259150, ss1711124149, ss1804366461, ss1926041336, ss2023654773, ss2151830122, ss2626315088, ss2707424518, ss2735693003, ss2747595186, ss2837514722, ss2998837619, ss3346902915, ss3646336579, ss3666727327, ss3733379104, ss3764844285, ss3824175119, ss3864298936, ss3911076920, ss3984334109, ss3984334110, ss3986340703, ss5176906733, ss5364776078, ss5640127599, ss5799427875, ss5800130104, ss5842048155, ss5848654641, ss5968617649, ss5981234921 NC_000006.11:32632776:C:T NC_000006.12:32664999:C:T (self)
41170825, 221423917, 15138698, 48613603, 6430989690, ss539204764, ss3025617873, ss3716936368, ss3808000090, ss3958760697, ss5237023222, ss5237190943, ss5237646302, ss5267970357, ss5314416064, ss5553644890, ss5714776499, ss5807340959, ss5855294161, ss5883275072 NC_000006.12:32664999:C:T NC_000006.12:32664999:C:T (self)
ss1522519, ss4413844, ss159712281 NT_007592.15:32572776:C:T NC_000006.12:32664999:C:T (self)
Help

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

No publications for rs1049068

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