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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.

rs17206049

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32684559 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.262877 (69581/264690, TOPMED)
A=0.253472 (35299/139262, GnomAD)
A=0.26807 (21091/78676, PAGE_STUDY) (+ 13 more)
A=0.25552 (8048/31496, ALFA)
A=0.31341 (8855/28254, 14KJPN)
A=0.30962 (5188/16756, 8.3KJPN)
A=0.3082 (1974/6404, 1000G_30x)
A=0.2448 (1226/5008, 1000G)
A=0.2848 (834/2928, KOREAN)
A=0.071 (71/998, GoNL)
A=0.200 (120/600, NorthernSweden)
G=0.359 (99/276, SGDP_PRJ)
A=0.227 (49/216, Qatari)
A=0.17 (7/40, GENOME_DK)
G=0.50 (10/20, Siberian)
A=0.50 (10/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 31496 G=0.74448 A=0.25552, C=0.00000
European Sub 23522 G=0.74254 A=0.25746, C=0.00000
African Sub 5706 G=0.7613 A=0.2387, C=0.0000
African Others Sub 182 G=0.802 A=0.198, C=0.000
African American Sub 5524 G=0.7600 A=0.2400, C=0.0000
Asian Sub 156 G=0.519 A=0.481, C=0.000
East Asian Sub 130 G=0.538 A=0.462, C=0.000
Other Asian Sub 26 G=0.42 A=0.58, C=0.00
Latin American 1 Sub 154 G=0.799 A=0.201, C=0.000
Latin American 2 Sub 616 G=0.750 A=0.250, C=0.000
South Asian Sub 94 G=0.72 A=0.28, C=0.00
Other Sub 1248 G=0.7244 A=0.2756, C=0.0000


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 G=0.737123 A=0.262877
gnomAD - Genomes Global Study-wide 139262 G=0.746528 A=0.253472
gnomAD - Genomes European Sub 75574 G=0.75567 A=0.24433
gnomAD - Genomes African Sub 41660 G=0.74196 A=0.25804
gnomAD - Genomes American Sub 13534 G=0.76408 A=0.23592
gnomAD - Genomes Ashkenazi Jewish Sub 3294 G=0.7067 A=0.2933
gnomAD - Genomes East Asian Sub 3066 G=0.5483 A=0.4517
gnomAD - Genomes Other Sub 2134 G=0.7470 A=0.2530
The PAGE Study Global Study-wide 78676 G=0.73193 A=0.26807
The PAGE Study AfricanAmerican Sub 32514 G=0.73882 A=0.26118
The PAGE Study Mexican Sub 10810 G=0.75819 A=0.24181
The PAGE Study Asian Sub 8316 G=0.6828 A=0.3172
The PAGE Study PuertoRican Sub 7916 G=0.7787 A=0.2213
The PAGE Study NativeHawaiian Sub 4514 G=0.6008 A=0.3992
The PAGE Study Cuban Sub 4230 G=0.7570 A=0.2430
The PAGE Study Dominican Sub 3828 G=0.7372 A=0.2628
The PAGE Study CentralAmerican Sub 2450 G=0.7727 A=0.2273
The PAGE Study SouthAmerican Sub 1982 G=0.7043 A=0.2957
The PAGE Study NativeAmerican Sub 1260 G=0.6897 A=0.3103
The PAGE Study SouthAsian Sub 856 G=0.737 A=0.263
Allele Frequency Aggregator Total Global 31496 G=0.74448 A=0.25552, C=0.00000
Allele Frequency Aggregator European Sub 23522 G=0.74254 A=0.25746, C=0.00000
Allele Frequency Aggregator African Sub 5706 G=0.7613 A=0.2387, C=0.0000
Allele Frequency Aggregator Other Sub 1248 G=0.7244 A=0.2756, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 616 G=0.750 A=0.250, C=0.000
Allele Frequency Aggregator Asian Sub 156 G=0.519 A=0.481, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 154 G=0.799 A=0.201, C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=0.72 A=0.28, C=0.00
14KJPN JAPANESE Study-wide 28254 G=0.68659 A=0.31341
8.3KJPN JAPANESE Study-wide 16756 G=0.69038 A=0.30962
1000Genomes_30x Global Study-wide 6404 G=0.6918 A=0.3082
1000Genomes_30x African Sub 1786 G=0.7055 A=0.2945
1000Genomes_30x Europe Sub 1266 G=0.7472 A=0.2528
1000Genomes_30x South Asian Sub 1202 G=0.7388 A=0.2612
1000Genomes_30x East Asian Sub 1170 G=0.5385 A=0.4615
1000Genomes_30x American Sub 980 G=0.720 A=0.280
1000Genomes Global Study-wide 5008 G=0.7552 A=0.2448
1000Genomes African Sub 1322 G=0.7746 A=0.2254
1000Genomes East Asian Sub 1008 G=0.6260 A=0.3740
1000Genomes Europe Sub 1006 G=0.8002 A=0.1998
1000Genomes South Asian Sub 978 G=0.798 A=0.202
1000Genomes American Sub 694 G=0.781 A=0.219
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.7152 A=0.2848
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.929 A=0.071
Northern Sweden ACPOP Study-wide 600 G=0.800 A=0.200
SGDP_PRJ Global Study-wide 276 G=0.359 A=0.641
Qatari Global Study-wide 216 G=0.773 A=0.227
The Danish reference pan genome Danish Study-wide 40 G=0.82 A=0.17
Siberian Global Study-wide 20 G=0.50 A=0.50
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.32684559G>A
GRCh38.p14 chr 6 NC_000006.12:g.32684559G>C
GRCh37.p13 chr 6 NC_000006.11:g.32652336G>A
GRCh37.p13 chr 6 NC_000006.11:g.32652336G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4097882G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4097882G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4097988G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4097988G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3878846G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3878846G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3884442G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3884442G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3921787A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3921787A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3927372A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3927372A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4084521G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4084521G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4083819G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4083819G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4104093G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4104093G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4109713G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4109713G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3976430A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3976430A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3982015A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3982015A>C
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 C
GRCh38.p14 chr 6 NC_000006.12:g.32684559= NC_000006.12:g.32684559G>A NC_000006.12:g.32684559G>C
GRCh37.p13 chr 6 NC_000006.11:g.32652336= NC_000006.11:g.32652336G>A NC_000006.11:g.32652336G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4097882= NT_113891.3:g.4097882G>A NT_113891.3:g.4097882G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4097988= NT_113891.2:g.4097988G>A NT_113891.2:g.4097988G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3878846= NT_167248.2:g.3878846G>A NT_167248.2:g.3878846G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3884442= NT_167248.1:g.3884442G>A NT_167248.1:g.3884442G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3921787A>G NT_167245.2:g.3921787= NT_167245.2:g.3921787A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3927372A>G NT_167245.1:g.3927372= NT_167245.1:g.3927372A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4084521= NT_167249.2:g.4084521G>A NT_167249.2:g.4084521G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4083819= NT_167249.1:g.4083819G>A NT_167249.1:g.4083819G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4104093= NT_167246.2:g.4104093G>A NT_167246.2:g.4104093G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4109713= NT_167246.1:g.4109713G>A NT_167246.1:g.4109713G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3976430A>G NT_167247.2:g.3976430= NT_167247.2:g.3976430A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3982015A>G NT_167247.1:g.3982015= NT_167247.1:g.3982015A>C
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#.

56 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 FHCRC ss23139318 Sep 20, 2004 (123)
2 SI_MHC_SNP ss35526019 May 24, 2005 (125)
3 1000GENOMES ss114164403 Jan 25, 2009 (137)
4 COMPLETE_GENOMICS ss163368523 Jul 04, 2010 (135)
5 BCM-HGSC-SUB ss207759470 Jul 04, 2010 (135)
6 1000GENOMES ss222317510 Jul 14, 2010 (137)
7 1000GENOMES ss233414941 Jul 14, 2010 (137)
8 1000GENOMES ss240481919 Jul 15, 2010 (137)
9 GMI ss278740583 May 04, 2012 (137)
10 PJP ss293830833 May 09, 2011 (137)
11 ILLUMINA ss533717983 Sep 08, 2015 (146)
12 TISHKOFF ss559120242 Apr 25, 2013 (138)
13 SSMP ss653051308 Apr 25, 2013 (138)
14 EVA-GONL ss982785187 Aug 21, 2014 (142)
15 1000GENOMES ss1319596571 Aug 21, 2014 (142)
16 EVA_GENOME_DK ss1581614288 Apr 01, 2015 (144)
17 WEILL_CORNELL_DGM ss1926042786 Feb 12, 2016 (147)
18 ILLUMINA ss1958894607 Feb 12, 2016 (147)
19 JJLAB ss2023655880 Sep 14, 2016 (149)
20 USC_VALOUEV ss2151831422 Dec 20, 2016 (150)
21 HUMAN_LONGEVITY ss2282991556 Dec 20, 2016 (150)
22 SYSTEMSBIOZJU ss2626315631 Nov 08, 2017 (151)
23 GRF ss2707426094 Nov 08, 2017 (151)
24 ILLUMINA ss2711072587 Nov 08, 2017 (151)
25 AFFY ss2985363822 Nov 08, 2017 (151)
26 SWEGEN ss2998839574 Nov 08, 2017 (151)
27 ILLUMINA ss3022605409 Nov 08, 2017 (151)
28 BIOINF_KMB_FNS_UNIBA ss3025618701 Nov 08, 2017 (151)
29 ILLUMINA ss3629510997 Oct 12, 2018 (152)
30 ILLUMINA ss3653119132 Oct 12, 2018 (152)
31 EVA_DECODE ss3716937824 Jul 13, 2019 (153)
32 ILLUMINA ss3726333417 Jul 13, 2019 (153)
33 ACPOP ss3733380348 Jul 13, 2019 (153)
34 EVA ss3764845454 Jul 13, 2019 (153)
35 PAGE_CC ss3771282084 Jul 13, 2019 (153)
36 KHV_HUMAN_GENOMES ss3808001561 Jul 13, 2019 (153)
37 EVA ss3829849447 Apr 26, 2020 (154)
38 EVA ss3838402015 Apr 26, 2020 (154)
39 EVA ss3843845862 Apr 26, 2020 (154)
40 SGDP_PRJ ss3864300811 Apr 26, 2020 (154)
41 KRGDB ss3911078785 Apr 26, 2020 (154)
42 VINODS ss4025195087 Apr 26, 2021 (155)
43 VINODS ss4025235456 Apr 26, 2021 (155)
44 VINODS ss4025293993 Apr 26, 2021 (155)
45 GNOMAD ss4139496839 Apr 26, 2021 (155)
46 TOPMED ss4698581414 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5176909193 Apr 26, 2021 (155)
48 1000G_HIGH_COVERAGE ss5267971606 Oct 13, 2022 (156)
49 1000G_HIGH_COVERAGE ss5553646752 Oct 13, 2022 (156)
50 SANFORD_IMAGENETICS ss5640129432 Oct 13, 2022 (156)
51 TOMMO_GENOMICS ss5714779187 Oct 13, 2022 (156)
52 YY_MCH ss5807342709 Oct 13, 2022 (156)
53 EVA ss5842049178 Oct 13, 2022 (156)
54 EVA ss5855294985 Oct 13, 2022 (156)
55 EVA ss5883276614 Oct 13, 2022 (156)
56 EVA ss5968618921 Oct 13, 2022 (156)
57 1000Genomes NC_000006.11 - 32652336 Oct 12, 2018 (152)
58 1000Genomes_30x NC_000006.12 - 32684559 Oct 13, 2022 (156)
59 The Danish reference pan genome NC_000006.11 - 32652336 Apr 26, 2020 (154)
60 gnomAD - Genomes NC_000006.12 - 32684559 Apr 26, 2021 (155)
61 Genome of the Netherlands Release 5 NC_000006.11 - 32652336 Apr 26, 2020 (154)
62 KOREAN population from KRGDB NC_000006.11 - 32652336 Apr 26, 2020 (154)
63 Northern Sweden NC_000006.11 - 32652336 Jul 13, 2019 (153)
64 The PAGE Study NC_000006.12 - 32684559 Jul 13, 2019 (153)
65 Qatari NC_000006.11 - 32652336 Apr 26, 2020 (154)
66 SGDP_PRJ NC_000006.11 - 32652336 Apr 26, 2020 (154)
67 Siberian NC_000006.11 - 32652336 Apr 26, 2020 (154)
68 8.3KJPN NC_000006.11 - 32652336 Apr 26, 2021 (155)
69 14KJPN NC_000006.12 - 32684559 Oct 13, 2022 (156)
70 TopMed NC_000006.12 - 32684559 Apr 26, 2021 (155)
71 ALFA NC_000006.12 - 32684559 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)
rs112364735 Sep 17, 2011 (135)
rs116426867 May 04, 2012 (137)
rs117136745 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss114164403, ss163368523, ss207759470, ss278740583, ss293830833 NC_000006.10:32760313:G:A NC_000006.12:32684558:G:A (self)
31365357, 7779227, 7779681, 18256179, 6665213, 8084716, 16317791, 4347776, 34878500, ss222317510, ss233414941, ss240481919, ss533717983, ss559120242, ss653051308, ss982785187, ss1319596571, ss1581614288, ss1926042786, ss1958894607, ss2023655880, ss2151831422, ss2626315631, ss2707426094, ss2711072587, ss2985363822, ss2998839574, ss3022605409, ss3629510997, ss3653119132, ss3733380348, ss3764845454, ss3829849447, ss3838402015, ss3864300811, ss3911078785, ss5176909193, ss5640129432, ss5842049178, ss5968618921 NC_000006.11:32652335:G:A NC_000006.12:32684558:G:A (self)
41172687, 221428066, 503553, 48616291, 535958972, 9684415761, ss2282991556, ss3025618701, ss3716937824, ss3726333417, ss3771282084, ss3808001561, ss3843845862, ss4139496839, ss4698581414, ss5267971606, ss5553646752, ss5714779187, ss5807342709, ss5855294985, ss5883276614 NC_000006.12:32684558:G:A NC_000006.12:32684558:G:A (self)
ss23139318, ss35526019 NT_007592.15:32592335:G:A NC_000006.12:32684558:G:A (self)
ss4025195087 NT_113891.3:4097881:G:A NC_000006.12:32684558:G:A (self)
ss4025235456 NT_167246.2:4104092:G:A NC_000006.12:32684558:G:A (self)
ss4025293993 NT_167249.2:4084520:G:A NC_000006.12:32684558:G:A (self)
9684415761 NC_000006.12:32684558:G:C NC_000006.12:32684558:G:C (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 rs17206049

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