Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs6657767

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:192500828 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.00987 (279/28256, 14KJPN)
G=0.00173 (29/16788, ALFA)
G=0.00990 (166/16760, 8.3KJPN) (+ 8 more)
G=0.1131 (724/6404, 1000G_30x)
G=0.1064 (533/5008, 1000G)
G=0.0060 (27/4480, Estonian)
G=0.0147 (43/2922, KOREAN)
G=0.0104 (19/1832, Korea1K)
G=0.002 (2/998, GoNL)
G=0.074 (16/216, Qatari)
C=0.37 (20/54, SGDP_PRJ)
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 16788 C=0.99827 G=0.00173, T=0.00000
European Sub 14084 C=0.99801 G=0.00199, T=0.00000
African Sub 1328 C=1.0000 G=0.0000, T=0.0000
African Others Sub 52 C=1.00 G=0.00, T=0.00
African American Sub 1276 C=1.0000 G=0.0000, T=0.0000
Asian Sub 112 C=1.000 G=0.000, T=0.000
East Asian Sub 86 C=1.00 G=0.00, T=0.00
Other Asian Sub 26 C=1.00 G=0.00, T=0.00
Latin American 1 Sub 134 C=1.000 G=0.000, T=0.000
Latin American 2 Sub 592 C=1.000 G=0.000, T=0.000
South Asian Sub 98 C=1.00 G=0.00, T=0.00
Other Sub 440 C=0.998 G=0.002, 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
14KJPN JAPANESE Study-wide 28256 C=0.99013 G=0.00987
Allele Frequency Aggregator Total Global 16788 C=0.99827 G=0.00173, T=0.00000
Allele Frequency Aggregator European Sub 14084 C=0.99801 G=0.00199, T=0.00000
Allele Frequency Aggregator African Sub 1328 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 592 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Other Sub 440 C=0.998 G=0.002, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 134 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 C=0.99010 G=0.00990
1000Genomes_30x Global Study-wide 6404 C=0.8869 G=0.1131
1000Genomes_30x African Sub 1786 C=0.6293 G=0.3707
1000Genomes_30x Europe Sub 1266 C=0.9937 G=0.0063
1000Genomes_30x South Asian Sub 1202 C=0.9975 G=0.0025
1000Genomes_30x East Asian Sub 1170 C=0.9846 G=0.0154
1000Genomes_30x American Sub 980 C=0.966 G=0.034
1000Genomes Global Study-wide 5008 C=0.8936 G=0.1064
1000Genomes African Sub 1322 C=0.6354 G=0.3646
1000Genomes East Asian Sub 1008 C=0.9831 G=0.0169
1000Genomes Europe Sub 1006 C=0.9920 G=0.0080
1000Genomes South Asian Sub 978 C=0.998 G=0.002
1000Genomes American Sub 694 C=0.965 G=0.035
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9940 G=0.0060
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9853 G=0.0147
Korean Genome Project KOREAN Study-wide 1832 C=0.9896 G=0.0104
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.998 G=0.002
Qatari Global Study-wide 216 C=0.926 G=0.074
SGDP_PRJ Global Study-wide 54 C=0.37 G=0.63
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.192500828C>G
GRCh38.p14 chr 1 NC_000001.11:g.192500828C>T
GRCh37.p13 chr 1 NC_000001.10:g.192469958C>G
GRCh37.p13 chr 1 NC_000001.10:g.192469958C>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= G T
GRCh38.p14 chr 1 NC_000001.11:g.192500828= NC_000001.11:g.192500828C>G NC_000001.11:g.192500828C>T
GRCh37.p13 chr 1 NC_000001.10:g.192469958= NC_000001.10:g.192469958C>G NC_000001.10:g.192469958C>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#.

32 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9811052 Jul 11, 2003 (116)
2 SSAHASNP ss35080904 May 24, 2005 (125)
3 1000GENOMES ss329116276 May 09, 2011 (134)
4 EVA-GONL ss975961736 Aug 21, 2014 (142)
5 1000GENOMES ss1293979670 Aug 21, 2014 (142)
6 EVA_UK10K_ALSPAC ss1601776116 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1601776117 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1644770149 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1644770150 Apr 01, 2015 (144)
10 HAMMER_LAB ss1795481648 Sep 08, 2015 (146)
11 WEILL_CORNELL_DGM ss1919195991 Feb 12, 2016 (147)
12 HUMAN_LONGEVITY ss2168714050 Dec 20, 2016 (150)
13 GRF ss2698129805 Nov 08, 2017 (151)
14 GNOMAD ss2764308602 Nov 08, 2017 (151)
15 SWEGEN ss2988174248 Nov 08, 2017 (151)
16 EGCUT_WGS ss3656131226 Jul 12, 2019 (153)
17 EVA ss3747128629 Jul 12, 2019 (153)
18 KHV_HUMAN_GENOMES ss3800133260 Jul 12, 2019 (153)
19 SGDP_PRJ ss3850549822 Apr 25, 2020 (154)
20 KRGDB ss3895823409 Apr 25, 2020 (154)
21 KOGIC ss3946160304 Apr 25, 2020 (154)
22 TOPMED ss4477637139 Apr 25, 2021 (155)
23 TOPMED ss4477637140 Apr 25, 2021 (155)
24 TOMMO_GENOMICS ss5147668262 Apr 25, 2021 (155)
25 1000G_HIGH_COVERAGE ss5245209159 Oct 12, 2022 (156)
26 EVA ss5323722414 Oct 12, 2022 (156)
27 1000G_HIGH_COVERAGE ss5519009046 Oct 12, 2022 (156)
28 SANFORD_IMAGENETICS ss5627113497 Oct 12, 2022 (156)
29 TOMMO_GENOMICS ss5675206587 Oct 12, 2022 (156)
30 YY_MCH ss5801489970 Oct 12, 2022 (156)
31 EVA ss5833025624 Oct 12, 2022 (156)
32 EVA ss5938934977 Oct 12, 2022 (156)
33 1000Genomes NC_000001.10 - 192469958 Oct 11, 2018 (152)
34 1000Genomes_30x NC_000001.11 - 192500828 Oct 12, 2022 (156)
35 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 2638431 (NC_000001.10:192469957:C:C 3843/3854, NC_000001.10:192469957:C:G 11/3854)
Row 2638432 (NC_000001.10:192469957:C:C 3854/3854, NC_000001.10:192469957:C:T 0/3854)

- Oct 11, 2018 (152)
36 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 2638431 (NC_000001.10:192469957:C:C 3843/3854, NC_000001.10:192469957:C:G 11/3854)
Row 2638432 (NC_000001.10:192469957:C:C 3854/3854, NC_000001.10:192469957:C:T 0/3854)

- Oct 11, 2018 (152)
37 Genetic variation in the Estonian population NC_000001.10 - 192469958 Oct 11, 2018 (152)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 34687946 (NC_000001.11:192500827:C:G 14494/140106)
Row 34687947 (NC_000001.11:192500827:C:T 9/140162)

- Apr 25, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 34687946 (NC_000001.11:192500827:C:G 14494/140106)
Row 34687947 (NC_000001.11:192500827:C:T 9/140162)

- Apr 25, 2021 (155)
40 Genome of the Netherlands Release 5 NC_000001.10 - 192469958 Apr 25, 2020 (154)
41 KOREAN population from KRGDB NC_000001.10 - 192469958 Apr 25, 2020 (154)
42 Korean Genome Project NC_000001.11 - 192500828 Apr 25, 2020 (154)
43 Qatari NC_000001.10 - 192469958 Apr 25, 2020 (154)
44 SGDP_PRJ NC_000001.10 - 192469958 Apr 25, 2020 (154)
45 8.3KJPN NC_000001.10 - 192469958 Apr 25, 2021 (155)
46 14KJPN NC_000001.11 - 192500828 Oct 12, 2022 (156)
47 TopMed

Submission ignored due to conflicting rows:
Row 41243474 (NC_000001.11:192500827:C:G 28569/264690)
Row 41243475 (NC_000001.11:192500827:C:T 20/264690)

- Apr 25, 2021 (155)
48 TopMed

Submission ignored due to conflicting rows:
Row 41243474 (NC_000001.11:192500827:C:G 28569/264690)
Row 41243475 (NC_000001.11:192500827:C:T 20/264690)

- Apr 25, 2021 (155)
49 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2638431 (NC_000001.10:192469957:C:C 3695/3708, NC_000001.10:192469957:C:G 13/3708)
Row 2638432 (NC_000001.10:192469957:C:C 3707/3708, NC_000001.10:192469957:C:T 1/3708)

- Oct 11, 2018 (152)
50 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2638431 (NC_000001.10:192469957:C:C 3695/3708, NC_000001.10:192469957:C:G 13/3708)
Row 2638432 (NC_000001.10:192469957:C:C 3707/3708, NC_000001.10:192469957:C:T 1/3708)

- Oct 11, 2018 (152)
51 ALFA NC_000001.11 - 192500828 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
ss35080904 NC_000001.8:189201614:C:G NC_000001.11:192500827:C:G (self)
4809597, 1869474, 1150129, 3000803, 1237921, 2566802, 5637569, ss329116276, ss975961736, ss1293979670, ss1601776116, ss1644770149, ss1795481648, ss1919195991, ss2698129805, ss2764308602, ss2988174248, ss3656131226, ss3747128629, ss3850549822, ss3895823409, ss5147668262, ss5323722414, ss5627113497, ss5833025624, ss5938934977 NC_000001.10:192469957:C:G NC_000001.11:192500827:C:G (self)
6534981, 2538305, 9043691, 3727006304, ss2168714050, ss3800133260, ss3946160304, ss4477637139, ss5245209159, ss5519009046, ss5675206587, ss5801489970 NC_000001.11:192500827:C:G NC_000001.11:192500827:C:G (self)
ss9811052 NT_004671.15:3824943:C:G NC_000001.11:192500827:C:G (self)
ss1601776117, ss1644770150, ss2764308602 NC_000001.10:192469957:C:T NC_000001.11:192500827:C:T (self)
3727006304, ss2168714050, ss4477637140 NC_000001.11:192500827:C:T NC_000001.11:192500827: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 rs6657767

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