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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.

rs6914250

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:71577135 (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
C=0.462348 (122379/264690, TOPMED)
C=0.323491 (47110/145630, ALFA)
C=0.46971 (13273/28258, 14KJPN) (+ 16 more)
C=0.47369 (7939/16760, 8.3KJPN)
C=0.4956 (3174/6404, 1000G_30x)
C=0.4868 (2438/5008, 1000G)
C=0.2147 (962/4480, Estonian)
C=0.2839 (1094/3854, ALSPAC)
C=0.2859 (1060/3708, TWINSUK)
C=0.4614 (1352/2930, KOREAN)
T=0.4513 (853/1890, HapMap)
C=0.2925 (327/1118, Daghestan)
C=0.298 (297/998, GoNL)
C=0.242 (145/600, NorthernSweden)
C=0.276 (115/416, SGDP_PRJ)
T=0.495 (107/216, Qatari)
C=0.486 (104/214, Vietnamese)
C=0.11 (6/56, Siberian)
C=0.17 (7/40, GENOME_DK)
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 145630 C=0.323491 A=0.000000, T=0.676509
European Sub 120770 C=0.280500 A=0.000000, T=0.719500
African Sub 8978 C=0.8476 A=0.0000, T=0.1524
African Others Sub 314 C=0.946 A=0.000, T=0.054
African American Sub 8664 C=0.8441 A=0.0000, T=0.1559
Asian Sub 588 C=0.485 A=0.000, T=0.515
East Asian Sub 444 C=0.475 A=0.000, T=0.525
Other Asian Sub 144 C=0.514 A=0.000, T=0.486
Latin American 1 Sub 766 C=0.461 A=0.000, T=0.539
Latin American 2 Sub 7914 C=0.3409 A=0.0000, T=0.6591
South Asian Sub 114 C=0.465 A=0.000, T=0.535
Other Sub 6500 C=0.3438 A=0.0000, T=0.6562


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 C=0.462348 T=0.537652
Allele Frequency Aggregator Total Global 145630 C=0.323491 A=0.000000, T=0.676509
Allele Frequency Aggregator European Sub 120770 C=0.280500 A=0.000000, T=0.719500
Allele Frequency Aggregator African Sub 8978 C=0.8476 A=0.0000, T=0.1524
Allele Frequency Aggregator Latin American 2 Sub 7914 C=0.3409 A=0.0000, T=0.6591
Allele Frequency Aggregator Other Sub 6500 C=0.3438 A=0.0000, T=0.6562
Allele Frequency Aggregator Latin American 1 Sub 766 C=0.461 A=0.000, T=0.539
Allele Frequency Aggregator Asian Sub 588 C=0.485 A=0.000, T=0.515
Allele Frequency Aggregator South Asian Sub 114 C=0.465 A=0.000, T=0.535
14KJPN JAPANESE Study-wide 28258 C=0.46971 T=0.53029
8.3KJPN JAPANESE Study-wide 16760 C=0.47369 T=0.52631
1000Genomes_30x Global Study-wide 6404 C=0.4956 T=0.5044
1000Genomes_30x African Sub 1786 C=0.9065 T=0.0935
1000Genomes_30x Europe Sub 1266 C=0.2646 T=0.7354
1000Genomes_30x South Asian Sub 1202 C=0.3078 T=0.6922
1000Genomes_30x East Asian Sub 1170 C=0.4436 T=0.5564
1000Genomes_30x American Sub 980 C=0.338 T=0.662
1000Genomes Global Study-wide 5008 C=0.4868 T=0.5132
1000Genomes African Sub 1322 C=0.8979 T=0.1021
1000Genomes East Asian Sub 1008 C=0.4484 T=0.5516
1000Genomes Europe Sub 1006 C=0.2575 T=0.7425
1000Genomes South Asian Sub 978 C=0.311 T=0.689
1000Genomes American Sub 694 C=0.340 T=0.660
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.2147 T=0.7853
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2839 T=0.7161
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2859 T=0.7141
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4614 T=0.5386
HapMap Global Study-wide 1890 C=0.5487 T=0.4513
HapMap American Sub 770 C=0.397 T=0.603
HapMap African Sub 690 C=0.839 T=0.161
HapMap Asian Sub 254 C=0.453 T=0.547
HapMap Europe Sub 176 C=0.210 T=0.790
Genome-wide autozygosity in Daghestan Global Study-wide 1118 C=0.2925 T=0.7075
Genome-wide autozygosity in Daghestan Daghestan Sub 618 C=0.277 T=0.723
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.312 T=0.688
Genome-wide autozygosity in Daghestan Central Asia Sub 120 C=0.283 T=0.717
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.287 T=0.713
Genome-wide autozygosity in Daghestan South Asian Sub 92 C=0.35 T=0.65
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.39 T=0.61
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.298 T=0.702
Northern Sweden ACPOP Study-wide 600 C=0.242 T=0.758
SGDP_PRJ Global Study-wide 416 C=0.276 T=0.724
Qatari Global Study-wide 216 C=0.505 T=0.495
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.486 T=0.514
Siberian Global Study-wide 56 C=0.11 T=0.89
The Danish reference pan genome Danish Study-wide 40 C=0.17 T=0.82
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.71577135C>A
GRCh38.p14 chr 6 NC_000006.12:g.71577135C>T
GRCh37.p13 chr 6 NC_000006.11:g.72286838C>A
GRCh37.p13 chr 6 NC_000006.11:g.72286838C>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 C= A T
GRCh38.p14 chr 6 NC_000006.12:g.71577135= NC_000006.12:g.71577135C>A NC_000006.12:g.71577135C>T
GRCh37.p13 chr 6 NC_000006.11:g.72286838= NC_000006.11:g.72286838C>A NC_000006.11:g.72286838C>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#.

102 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10297273 Jul 11, 2003 (116)
2 SC_SNP ss13053148 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss17132769 Feb 27, 2004 (120)
4 PERLEGEN ss24459269 Sep 20, 2004 (123)
5 PERLEGEN ss68980140 May 17, 2007 (127)
6 ILLUMINA ss75132783 Dec 06, 2007 (129)
7 AFFY ss76526585 Dec 06, 2007 (129)
8 BCMHGSC_JDW ss93489631 Mar 24, 2008 (129)
9 1000GENOMES ss110319326 Jan 24, 2009 (130)
10 KRIBB_YJKIM ss119532066 Dec 01, 2009 (131)
11 GMI ss157128874 Dec 01, 2009 (131)
12 ILLUMINA ss160824687 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss162491018 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss163699570 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss166863590 Jul 04, 2010 (132)
16 ILLUMINA ss174165572 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss207298812 Jul 04, 2010 (132)
18 1000GENOMES ss211861509 Jul 14, 2010 (132)
19 1000GENOMES ss222464406 Jul 14, 2010 (132)
20 1000GENOMES ss233529422 Jul 15, 2010 (132)
21 1000GENOMES ss240573645 Jul 15, 2010 (132)
22 GMI ss278861433 May 04, 2012 (137)
23 GMI ss285436370 Apr 25, 2013 (138)
24 PJP ss293633217 May 09, 2011 (134)
25 ILLUMINA ss410867643 Sep 17, 2011 (135)
26 ILLUMINA ss481398310 May 04, 2012 (137)
27 ILLUMINA ss481424821 May 04, 2012 (137)
28 ILLUMINA ss482403779 Sep 08, 2015 (146)
29 ILLUMINA ss485494141 May 04, 2012 (137)
30 ILLUMINA ss537409539 Sep 08, 2015 (146)
31 TISHKOFF ss559284634 Apr 25, 2013 (138)
32 SSMP ss653241135 Apr 25, 2013 (138)
33 ILLUMINA ss778585227 Sep 08, 2015 (146)
34 ILLUMINA ss783192598 Sep 08, 2015 (146)
35 ILLUMINA ss784147711 Sep 08, 2015 (146)
36 ILLUMINA ss832452432 Sep 08, 2015 (146)
37 ILLUMINA ss834042371 Sep 08, 2015 (146)
38 EVA-GONL ss983079458 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1073721034 Aug 21, 2014 (142)
40 1000GENOMES ss1320682386 Aug 21, 2014 (142)
41 HAMMER_LAB ss1397459588 Sep 08, 2015 (146)
42 DDI ss1430776492 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1581732439 Apr 01, 2015 (144)
44 EVA_DECODE ss1592621719 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1615854583 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1658848616 Apr 01, 2015 (144)
47 EVA_SVP ss1712872065 Apr 01, 2015 (144)
48 ILLUMINA ss1752646371 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1926335932 Feb 12, 2016 (147)
50 GENOMED ss1970431432 Jul 19, 2016 (147)
51 JJLAB ss2023810035 Sep 14, 2016 (149)
52 USC_VALOUEV ss2152001837 Dec 20, 2016 (150)
53 HUMAN_LONGEVITY ss2285024820 Dec 20, 2016 (150)
54 SYSTEMSBIOZJU ss2626399475 Nov 08, 2017 (151)
55 ILLUMINA ss2634466907 Nov 08, 2017 (151)
56 GRF ss2707610623 Nov 08, 2017 (151)
57 GNOMAD ss2840537445 Nov 08, 2017 (151)
58 SWEGEN ss2999306109 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3025698226 Nov 08, 2017 (151)
60 CSHL ss3347043214 Nov 08, 2017 (151)
61 ILLUMINA ss3629574613 Oct 12, 2018 (152)
62 ILLUMINA ss3632382458 Oct 12, 2018 (152)
63 ILLUMINA ss3633425766 Oct 12, 2018 (152)
64 ILLUMINA ss3634148840 Oct 12, 2018 (152)
65 ILLUMINA ss3635073017 Oct 12, 2018 (152)
66 ILLUMINA ss3635829586 Oct 12, 2018 (152)
67 ILLUMINA ss3636796439 Oct 12, 2018 (152)
68 ILLUMINA ss3637582415 Oct 12, 2018 (152)
69 ILLUMINA ss3638637156 Oct 12, 2018 (152)
70 ILLUMINA ss3640780317 Oct 12, 2018 (152)
71 ILLUMINA ss3643577721 Oct 12, 2018 (152)
72 EGCUT_WGS ss3667175165 Jul 13, 2019 (153)
73 EVA_DECODE ss3717488176 Jul 13, 2019 (153)
74 ACPOP ss3733630778 Jul 13, 2019 (153)
75 ILLUMINA ss3745372952 Jul 13, 2019 (153)
76 EVA ss3765185662 Jul 13, 2019 (153)
77 ILLUMINA ss3772866460 Jul 13, 2019 (153)
78 PACBIO ss3785513140 Jul 13, 2019 (153)
79 PACBIO ss3790858278 Jul 13, 2019 (153)
80 PACBIO ss3795737332 Jul 13, 2019 (153)
81 KHV_HUMAN_GENOMES ss3808334273 Jul 13, 2019 (153)
82 EVA ss3829997008 Apr 26, 2020 (154)
83 EVA ss3838478337 Apr 26, 2020 (154)
84 EVA ss3843925390 Apr 26, 2020 (154)
85 SGDP_PRJ ss3864871641 Apr 26, 2020 (154)
86 KRGDB ss3911738266 Apr 26, 2020 (154)
87 TOPMED ss4707825918 Apr 26, 2021 (155)
88 TOMMO_GENOMICS ss5178125681 Apr 26, 2021 (155)
89 1000G_HIGH_COVERAGE ss5268943797 Oct 17, 2022 (156)
90 EVA ss5315164545 Oct 17, 2022 (156)
91 EVA ss5366488921 Oct 17, 2022 (156)
92 HUGCELL_USP ss5466538699 Oct 17, 2022 (156)
93 EVA ss5508553265 Oct 17, 2022 (156)
94 1000G_HIGH_COVERAGE ss5555130037 Oct 17, 2022 (156)
95 SANFORD_IMAGENETICS ss5640684678 Oct 17, 2022 (156)
96 TOMMO_GENOMICS ss5716492034 Oct 17, 2022 (156)
97 EVA ss5799692300 Oct 17, 2022 (156)
98 YY_MCH ss5807603271 Oct 17, 2022 (156)
99 EVA ss5842445891 Oct 17, 2022 (156)
100 EVA ss5855412495 Oct 17, 2022 (156)
101 EVA ss5884356756 Oct 17, 2022 (156)
102 EVA ss5969179150 Oct 17, 2022 (156)
103 1000Genomes NC_000006.11 - 72286838 Oct 12, 2018 (152)
104 1000Genomes_30x NC_000006.12 - 71577135 Oct 17, 2022 (156)
105 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 72286838 Oct 12, 2018 (152)
106 Genome-wide autozygosity in Daghestan NC_000006.10 - 72343559 Apr 26, 2020 (154)
107 Genetic variation in the Estonian population NC_000006.11 - 72286838 Oct 12, 2018 (152)
108 The Danish reference pan genome NC_000006.11 - 72286838 Apr 26, 2020 (154)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 229315607 (NC_000006.12:71577134:C:A 1/140024)
Row 229315608 (NC_000006.12:71577134:C:T 78020/139976)

- Apr 26, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 229315607 (NC_000006.12:71577134:C:A 1/140024)
Row 229315608 (NC_000006.12:71577134:C:T 78020/139976)

- Apr 26, 2021 (155)
111 Genome of the Netherlands Release 5 NC_000006.11 - 72286838 Apr 26, 2020 (154)
112 HapMap NC_000006.12 - 71577135 Apr 26, 2020 (154)
113 KOREAN population from KRGDB NC_000006.11 - 72286838 Apr 26, 2020 (154)
114 Northern Sweden NC_000006.11 - 72286838 Jul 13, 2019 (153)
115 Qatari NC_000006.11 - 72286838 Apr 26, 2020 (154)
116 SGDP_PRJ NC_000006.11 - 72286838 Apr 26, 2020 (154)
117 Siberian NC_000006.11 - 72286838 Apr 26, 2020 (154)
118 8.3KJPN NC_000006.11 - 72286838 Apr 26, 2021 (155)
119 14KJPN NC_000006.12 - 71577135 Oct 17, 2022 (156)
120 TopMed NC_000006.12 - 71577135 Apr 26, 2021 (155)
121 UK 10K study - Twins NC_000006.11 - 72286838 Oct 12, 2018 (152)
122 A Vietnamese Genetic Variation Database NC_000006.11 - 72286838 Jul 13, 2019 (153)
123 ALFA NC_000006.12 - 71577135 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)
rs17549570 Oct 07, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
668167404 NC_000006.12:71577134:C:A NC_000006.12:71577134:C:A (self)
434156, ss76526585, ss93489631, ss110319326, ss162491018, ss163699570, ss166863590, ss207298812, ss211861509, ss278861433, ss285436370, ss293633217, ss481398310, ss1397459588, ss1592621719, ss1712872065, ss3643577721 NC_000006.10:72343558:C:T NC_000006.12:71577134:C:T (self)
32490624, 18102242, 12913413, 7897378, 8064814, 18915660, 6915643, 8377862, 16888621, 4518191, 36094988, 18102242, 4021338, ss222464406, ss233529422, ss240573645, ss481424821, ss482403779, ss485494141, ss537409539, ss559284634, ss653241135, ss778585227, ss783192598, ss784147711, ss832452432, ss834042371, ss983079458, ss1073721034, ss1320682386, ss1430776492, ss1581732439, ss1615854583, ss1658848616, ss1752646371, ss1926335932, ss1970431432, ss2023810035, ss2152001837, ss2626399475, ss2634466907, ss2707610623, ss2840537445, ss2999306109, ss3347043214, ss3629574613, ss3632382458, ss3633425766, ss3634148840, ss3635073017, ss3635829586, ss3636796439, ss3637582415, ss3638637156, ss3640780317, ss3667175165, ss3733630778, ss3745372952, ss3765185662, ss3772866460, ss3785513140, ss3790858278, ss3795737332, ss3829997008, ss3838478337, ss3864871641, ss3911738266, ss5178125681, ss5315164545, ss5366488921, ss5508553265, ss5640684678, ss5799692300, ss5842445891, ss5969179150 NC_000006.11:72286837:C:T NC_000006.12:71577134:C:T (self)
42655972, 3161327, 50329138, 545203476, 668167404, ss2285024820, ss3025698226, ss3717488176, ss3808334273, ss3843925390, ss4707825918, ss5268943797, ss5466538699, ss5555130037, ss5716492034, ss5807603271, ss5855412495, ss5884356756 NC_000006.12:71577134:C:T NC_000006.12:71577134:C:T (self)
ss10297273, ss13053148, ss17132769 NT_007299.12:10107010:C:T NC_000006.12:71577134:C:T (self)
ss24459269, ss68980140, ss75132783, ss119532066, ss157128874, ss160824687, ss174165572, ss410867643 NT_007299.13:10406671:C:T NC_000006.12:71577134: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 rs6914250

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