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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.

rs6675708

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:171763223 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.145170 (38425/264690, TOPMED)
A=0.181685 (25845/142252, ALFA)
A=0.153871 (21562/140130, GnomAD) (+ 18 more)
A=0.19001 (5369/28256, 14KJPN)
A=0.18950 (3176/16760, 8.3KJPN)
A=0.1262 (808/6404, 1000G_30x)
A=0.1266 (634/5008, 1000G)
A=0.2435 (1091/4480, Estonian)
A=0.1863 (718/3854, ALSPAC)
A=0.1877 (696/3708, TWINSUK)
A=0.1498 (439/2930, KOREAN)
A=0.1578 (289/1832, Korea1K)
A=0.191 (191/998, GoNL)
A=0.213 (128/600, NorthernSweden)
A=0.170 (56/330, HapMap)
A=0.139 (30/216, Qatari)
A=0.168 (36/214, Vietnamese)
G=0.436 (61/140, SGDP_PRJ)
A=0.17 (7/40, GENOME_DK)
G=0.50 (12/24, Siberian)
A=0.50 (12/24, 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 142252 G=0.818315 A=0.181685
European Sub 122772 G=0.808833 A=0.191167
African Sub 5534 G=0.9131 A=0.0869
African Others Sub 208 G=0.913 A=0.087
African American Sub 5326 G=0.9131 A=0.0869
Asian Sub 622 G=0.841 A=0.159
East Asian Sub 490 G=0.831 A=0.169
Other Asian Sub 132 G=0.879 A=0.121
Latin American 1 Sub 738 G=0.877 A=0.123
Latin American 2 Sub 6272 G=0.8887 A=0.1113
South Asian Sub 184 G=0.891 A=0.109
Other Sub 6130 G=0.8392 A=0.1608


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=0.854830 A=0.145170
Allele Frequency Aggregator Total Global 142252 G=0.818315 A=0.181685
Allele Frequency Aggregator European Sub 122772 G=0.808833 A=0.191167
Allele Frequency Aggregator Latin American 2 Sub 6272 G=0.8887 A=0.1113
Allele Frequency Aggregator Other Sub 6130 G=0.8392 A=0.1608
Allele Frequency Aggregator African Sub 5534 G=0.9131 A=0.0869
Allele Frequency Aggregator Latin American 1 Sub 738 G=0.877 A=0.123
Allele Frequency Aggregator Asian Sub 622 G=0.841 A=0.159
Allele Frequency Aggregator South Asian Sub 184 G=0.891 A=0.109
gnomAD - Genomes Global Study-wide 140130 G=0.846129 A=0.153871
gnomAD - Genomes European Sub 75888 G=0.80558 A=0.19442
gnomAD - Genomes African Sub 42000 G=0.91171 A=0.08829
gnomAD - Genomes American Sub 13646 G=0.87601 A=0.12399
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.8300 A=0.1700
gnomAD - Genomes East Asian Sub 3126 G=0.8375 A=0.1625
gnomAD - Genomes Other Sub 2146 G=0.8439 A=0.1561
14KJPN JAPANESE Study-wide 28256 G=0.80999 A=0.19001
8.3KJPN JAPANESE Study-wide 16760 G=0.81050 A=0.18950
1000Genomes_30x Global Study-wide 6404 G=0.8738 A=0.1262
1000Genomes_30x African Sub 1786 G=0.9311 A=0.0689
1000Genomes_30x Europe Sub 1266 G=0.8081 A=0.1919
1000Genomes_30x South Asian Sub 1202 G=0.9143 A=0.0857
1000Genomes_30x East Asian Sub 1170 G=0.8197 A=0.1803
1000Genomes_30x American Sub 980 G=0.869 A=0.131
1000Genomes Global Study-wide 5008 G=0.8734 A=0.1266
1000Genomes African Sub 1322 G=0.9357 A=0.0643
1000Genomes East Asian Sub 1008 G=0.8224 A=0.1776
1000Genomes Europe Sub 1006 G=0.8042 A=0.1958
1000Genomes South Asian Sub 978 G=0.911 A=0.089
1000Genomes American Sub 694 G=0.876 A=0.124
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7565 A=0.2435
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8137 A=0.1863
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8123 A=0.1877
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8502 A=0.1498
Korean Genome Project KOREAN Study-wide 1832 G=0.8422 A=0.1578
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.809 A=0.191
Northern Sweden ACPOP Study-wide 600 G=0.787 A=0.213
HapMap Global Study-wide 330 G=0.830 A=0.170
HapMap African Sub 120 G=0.933 A=0.067
HapMap American Sub 120 G=0.800 A=0.200
HapMap Asian Sub 90 G=0.73 A=0.27
Qatari Global Study-wide 216 G=0.861 A=0.139
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.832 A=0.168
SGDP_PRJ Global Study-wide 140 G=0.436 A=0.564
The Danish reference pan genome Danish Study-wide 40 G=0.82 A=0.17
Siberian Global Study-wide 24 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 1 NC_000001.11:g.171763223G>A
GRCh37.p13 chr 1 NC_000001.10:g.171732363G>A
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
GRCh38.p14 chr 1 NC_000001.11:g.171763223= NC_000001.11:g.171763223G>A
GRCh37.p13 chr 1 NC_000001.10:g.171732363= NC_000001.10:g.171732363G>A
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#.

93 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9847710 Jul 11, 2003 (116)
2 ABI ss41228246 Mar 14, 2006 (126)
3 BCMHGSC_JDW ss87868656 Mar 23, 2008 (129)
4 HUMANGENOME_JCVI ss99261873 Feb 04, 2009 (130)
5 1000GENOMES ss108699828 Jan 23, 2009 (130)
6 ENSEMBL ss138104054 Dec 01, 2009 (131)
7 ENSEMBL ss143009527 Dec 01, 2009 (131)
8 ILLUMINA ss160796754 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss165432826 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss167277181 Jul 04, 2010 (132)
11 BUSHMAN ss199242638 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss205250742 Jul 04, 2010 (132)
13 1000GENOMES ss218716627 Jul 14, 2010 (132)
14 1000GENOMES ss230781211 Jul 14, 2010 (132)
15 1000GENOMES ss238418434 Jul 15, 2010 (132)
16 GMI ss276100693 May 04, 2012 (137)
17 PJP ss290663377 May 09, 2011 (134)
18 ILLUMINA ss481313246 May 04, 2012 (137)
19 ILLUMINA ss481338352 May 04, 2012 (137)
20 ILLUMINA ss482320480 Sep 08, 2015 (146)
21 ILLUMINA ss485451815 May 04, 2012 (137)
22 ILLUMINA ss537376966 Sep 08, 2015 (146)
23 TISHKOFF ss554846443 Apr 25, 2013 (138)
24 SSMP ss648498297 Apr 25, 2013 (138)
25 ILLUMINA ss778575954 Sep 08, 2015 (146)
26 ILLUMINA ss783171358 Sep 08, 2015 (146)
27 ILLUMINA ss784126889 Sep 08, 2015 (146)
28 ILLUMINA ss832430905 Sep 08, 2015 (146)
29 ILLUMINA ss834033029 Sep 08, 2015 (146)
30 EVA-GONL ss975811512 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1068363789 Aug 21, 2014 (142)
32 1000GENOMES ss1293410081 Aug 21, 2014 (142)
33 DDI ss1426018015 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1574475703 Apr 01, 2015 (144)
35 EVA_DECODE ss1585198063 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1601473145 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1644467178 Apr 01, 2015 (144)
38 ILLUMINA ss1751881528 Sep 08, 2015 (146)
39 HAMMER_LAB ss1795268610 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1919048798 Feb 12, 2016 (147)
41 GENOMED ss1966898433 Jul 19, 2016 (147)
42 JJLAB ss2020040485 Sep 14, 2016 (149)
43 USC_VALOUEV ss2148067931 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2167515418 Dec 20, 2016 (150)
45 ILLUMINA ss2632592986 Nov 08, 2017 (151)
46 GRF ss2698046359 Nov 08, 2017 (151)
47 GNOMAD ss2762677464 Nov 08, 2017 (151)
48 SWEGEN ss2987949277 Nov 08, 2017 (151)
49 BIOINF_KMB_FNS_UNIBA ss3023779152 Nov 08, 2017 (151)
50 CSHL ss3343769560 Nov 08, 2017 (151)
51 ILLUMINA ss3626240133 Oct 11, 2018 (152)
52 ILLUMINA ss3630624650 Oct 11, 2018 (152)
53 ILLUMINA ss3632915258 Oct 11, 2018 (152)
54 ILLUMINA ss3633610837 Oct 11, 2018 (152)
55 ILLUMINA ss3634358465 Oct 11, 2018 (152)
56 ILLUMINA ss3635304176 Oct 11, 2018 (152)
57 ILLUMINA ss3636037363 Oct 11, 2018 (152)
58 ILLUMINA ss3637054686 Oct 11, 2018 (152)
59 ILLUMINA ss3640065819 Oct 11, 2018 (152)
60 URBANLAB ss3646819427 Oct 11, 2018 (152)
61 EGCUT_WGS ss3655893118 Jul 12, 2019 (153)
62 EVA_DECODE ss3688020225 Jul 12, 2019 (153)
63 ACPOP ss3727593905 Jul 12, 2019 (153)
64 ILLUMINA ss3744659337 Jul 12, 2019 (153)
65 EVA ss3746957380 Jul 12, 2019 (153)
66 ILLUMINA ss3772160373 Jul 12, 2019 (153)
67 PACBIO ss3783602543 Jul 12, 2019 (153)
68 PACBIO ss3789228546 Jul 12, 2019 (153)
69 PACBIO ss3794100608 Jul 12, 2019 (153)
70 KHV_HUMAN_GENOMES ss3799959196 Jul 12, 2019 (153)
71 EVA ss3826489598 Apr 25, 2020 (154)
72 EVA ss3836641733 Apr 25, 2020 (154)
73 EVA ss3842051745 Apr 25, 2020 (154)
74 SGDP_PRJ ss3850257864 Apr 25, 2020 (154)
75 KRGDB ss3895496489 Apr 25, 2020 (154)
76 KOGIC ss3945892322 Apr 25, 2020 (154)
77 EVA ss4016945811 Apr 25, 2021 (155)
78 TOPMED ss4472519758 Apr 25, 2021 (155)
79 TOMMO_GENOMICS ss5147027363 Apr 25, 2021 (155)
80 1000G_HIGH_COVERAGE ss5244711921 Oct 13, 2022 (156)
81 EVA ss5314660991 Oct 13, 2022 (156)
82 EVA ss5322814923 Oct 13, 2022 (156)
83 HUGCELL_USP ss5445256347 Oct 13, 2022 (156)
84 EVA ss5506072663 Oct 13, 2022 (156)
85 1000G_HIGH_COVERAGE ss5518250452 Oct 13, 2022 (156)
86 SANFORD_IMAGENETICS ss5626832945 Oct 13, 2022 (156)
87 TOMMO_GENOMICS ss5674382741 Oct 13, 2022 (156)
88 EVA ss5799503137 Oct 13, 2022 (156)
89 YY_MCH ss5801367297 Oct 13, 2022 (156)
90 EVA ss5832833092 Oct 13, 2022 (156)
91 EVA ss5849159445 Oct 13, 2022 (156)
92 EVA ss5910726821 Oct 13, 2022 (156)
93 EVA ss5938637081 Oct 13, 2022 (156)
94 1000Genomes NC_000001.10 - 171732363 Oct 11, 2018 (152)
95 1000Genomes_30x NC_000001.11 - 171763223 Oct 13, 2022 (156)
96 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 171732363 Oct 11, 2018 (152)
97 Genetic variation in the Estonian population NC_000001.10 - 171732363 Oct 11, 2018 (152)
98 The Danish reference pan genome NC_000001.10 - 171732363 Apr 25, 2020 (154)
99 gnomAD - Genomes NC_000001.11 - 171763223 Apr 25, 2021 (155)
100 Genome of the Netherlands Release 5 NC_000001.10 - 171732363 Apr 25, 2020 (154)
101 HapMap NC_000001.11 - 171763223 Apr 25, 2020 (154)
102 KOREAN population from KRGDB NC_000001.10 - 171732363 Apr 25, 2020 (154)
103 Korean Genome Project NC_000001.11 - 171763223 Apr 25, 2020 (154)
104 Northern Sweden NC_000001.10 - 171732363 Jul 12, 2019 (153)
105 Qatari NC_000001.10 - 171732363 Apr 25, 2020 (154)
106 SGDP_PRJ NC_000001.10 - 171732363 Apr 25, 2020 (154)
107 Siberian NC_000001.10 - 171732363 Apr 25, 2020 (154)
108 8.3KJPN NC_000001.10 - 171732363 Apr 25, 2021 (155)
109 14KJPN NC_000001.11 - 171763223 Oct 13, 2022 (156)
110 TopMed NC_000001.11 - 171763223 Apr 25, 2021 (155)
111 UK 10K study - Twins NC_000001.10 - 171732363 Oct 11, 2018 (152)
112 A Vietnamese Genetic Variation Database NC_000001.10 - 171732363 Jul 12, 2019 (153)
113 ALFA NC_000001.11 - 171763223 Apr 25, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss87868656, ss108699828, ss165432826, ss167277181, ss199242638, ss205250742, ss276100693, ss290663377, ss481313246, ss1585198063 NC_000001.9:169998985:G:A NC_000001.11:171763222:G:A (self)
4218830, 2305411, 1631366, 1759894, 1003448, 2673883, 878770, 1090728, 2274844, 584285, 4996670, 2305411, 495979, ss218716627, ss230781211, ss238418434, ss481338352, ss482320480, ss485451815, ss537376966, ss554846443, ss648498297, ss778575954, ss783171358, ss784126889, ss832430905, ss834033029, ss975811512, ss1068363789, ss1293410081, ss1426018015, ss1574475703, ss1601473145, ss1644467178, ss1751881528, ss1795268610, ss1919048798, ss1966898433, ss2020040485, ss2148067931, ss2632592986, ss2698046359, ss2762677464, ss2987949277, ss3343769560, ss3626240133, ss3630624650, ss3632915258, ss3633610837, ss3634358465, ss3635304176, ss3636037363, ss3637054686, ss3640065819, ss3655893118, ss3727593905, ss3744659337, ss3746957380, ss3772160373, ss3783602543, ss3789228546, ss3794100608, ss3826489598, ss3836641733, ss3850257864, ss3895496489, ss4016945811, ss5147027363, ss5314660991, ss5322814923, ss5506072663, ss5626832945, ss5799503137, ss5832833092, ss5938637081 NC_000001.10:171732362:G:A NC_000001.11:171763222:G:A (self)
5776387, 30509508, 203677, 2270323, 8219845, 36126093, 13044380377, ss2167515418, ss3023779152, ss3646819427, ss3688020225, ss3799959196, ss3842051745, ss3945892322, ss4472519758, ss5244711921, ss5445256347, ss5518250452, ss5674382741, ss5801367297, ss5849159445, ss5910726821 NC_000001.11:171763222:G:A NC_000001.11:171763222:G:A (self)
ss9847710 NT_004487.15:585920:G:A NC_000001.11:171763222:G:A (self)
ss41228246, ss99261873, ss138104054, ss143009527, ss160796754 NT_004487.19:23221004:G:A NC_000001.11:171763222:G:A (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 rs6675708

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