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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.

rs9442674

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:71496334 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.092943 (24601/264690, TOPMED)
C=0.089362 (12516/140060, GnomAD)
C=0.02424 (685/28258, 14KJPN) (+ 15 more)
C=0.06543 (1236/18890, ALFA)
C=0.02476 (415/16760, 8.3KJPN)
C=0.0840 (538/6404, 1000G_30x)
C=0.0791 (396/5008, 1000G)
C=0.0268 (120/4480, Estonian)
C=0.0439 (169/3854, ALSPAC)
C=0.0483 (179/3708, TWINSUK)
C=0.0246 (72/2922, KOREAN)
C=0.044 (44/998, GoNL)
C=0.013 (8/600, NorthernSweden)
C=0.085 (28/330, HapMap)
C=0.162 (35/216, Qatari)
C=0.023 (5/214, Vietnamese)
T=0.46 (24/52, SGDP_PRJ)
C=0.03 (1/40, 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 18890 T=0.93457 C=0.06543
European Sub 14286 T=0.96045 C=0.03955
African Sub 2946 T=0.8075 C=0.1925
African Others Sub 114 T=0.754 C=0.246
African American Sub 2832 T=0.8097 C=0.1903
Asian Sub 112 T=0.973 C=0.027
East Asian Sub 86 T=0.98 C=0.02
Other Asian Sub 26 T=0.96 C=0.04
Latin American 1 Sub 146 T=0.959 C=0.041
Latin American 2 Sub 610 T=0.948 C=0.052
South Asian Sub 98 T=0.98 C=0.02
Other Sub 692 T=0.912 C=0.088


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 T=0.907057 C=0.092943
gnomAD - Genomes Global Study-wide 140060 T=0.910638 C=0.089362
gnomAD - Genomes European Sub 75900 T=0.95657 C=0.04343
gnomAD - Genomes African Sub 41942 T=0.80509 C=0.19491
gnomAD - Genomes American Sub 13616 T=0.94426 C=0.05574
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.9853 C=0.0147
gnomAD - Genomes East Asian Sub 3130 T=0.9738 C=0.0262
gnomAD - Genomes Other Sub 2148 T=0.9278 C=0.0722
14KJPN JAPANESE Study-wide 28258 T=0.97576 C=0.02424
Allele Frequency Aggregator Total Global 18890 T=0.93457 C=0.06543
Allele Frequency Aggregator European Sub 14286 T=0.96045 C=0.03955
Allele Frequency Aggregator African Sub 2946 T=0.8075 C=0.1925
Allele Frequency Aggregator Other Sub 692 T=0.912 C=0.088
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.948 C=0.052
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.959 C=0.041
Allele Frequency Aggregator Asian Sub 112 T=0.973 C=0.027
Allele Frequency Aggregator South Asian Sub 98 T=0.98 C=0.02
8.3KJPN JAPANESE Study-wide 16760 T=0.97524 C=0.02476
1000Genomes_30x Global Study-wide 6404 T=0.9160 C=0.0840
1000Genomes_30x African Sub 1786 T=0.7900 C=0.2100
1000Genomes_30x Europe Sub 1266 T=0.9637 C=0.0363
1000Genomes_30x South Asian Sub 1202 T=0.9834 C=0.0166
1000Genomes_30x East Asian Sub 1170 T=0.9641 C=0.0359
1000Genomes_30x American Sub 980 T=0.944 C=0.056
1000Genomes Global Study-wide 5008 T=0.9209 C=0.0791
1000Genomes African Sub 1322 T=0.7988 C=0.2012
1000Genomes East Asian Sub 1008 T=0.9643 C=0.0357
1000Genomes Europe Sub 1006 T=0.9652 C=0.0348
1000Genomes South Asian Sub 978 T=0.981 C=0.019
1000Genomes American Sub 694 T=0.942 C=0.058
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9732 C=0.0268
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9561 C=0.0439
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9517 C=0.0483
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9754 C=0.0246
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.956 C=0.044
Northern Sweden ACPOP Study-wide 600 T=0.987 C=0.013
HapMap Global Study-wide 330 T=0.915 C=0.085
HapMap African Sub 120 T=0.800 C=0.200
HapMap American Sub 120 T=0.992 C=0.008
HapMap Asian Sub 90 T=0.97 C=0.03
Qatari Global Study-wide 216 T=0.838 C=0.162
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.977 C=0.023
SGDP_PRJ Global Study-wide 52 T=0.46 C=0.54
The Danish reference pan genome Danish Study-wide 40 T=0.97 C=0.03
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.71496334T>C
GRCh37.p13 chr 6 NC_000006.11:g.72206037T>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 T= C
GRCh38.p14 chr 6 NC_000006.12:g.71496334= NC_000006.12:g.71496334T>C
GRCh37.p13 chr 6 NC_000006.11:g.72206037= NC_000006.11:g.72206037T>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#.

46 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13053131 Dec 05, 2003 (119)
2 COMPLETE_GENOMICS ss163698497 Jul 04, 2010 (132)
3 BUSHMAN ss202003138 Jul 04, 2010 (132)
4 1000GENOMES ss211861312 Jul 14, 2010 (132)
5 1000GENOMES ss222463906 Jul 14, 2010 (132)
6 1000GENOMES ss233528959 Jul 15, 2010 (132)
7 ILLUMINA ss410867338 Sep 17, 2011 (135)
8 TISHKOFF ss559284113 Apr 25, 2013 (138)
9 SSMP ss653240485 Apr 25, 2013 (138)
10 EVA-GONL ss983078591 Aug 21, 2014 (142)
11 JMKIDD_LAB ss1073720446 Aug 21, 2014 (142)
12 1000GENOMES ss1320679810 Aug 21, 2014 (142)
13 DDI ss1430776047 Apr 01, 2015 (144)
14 EVA_GENOME_DK ss1581732087 Apr 01, 2015 (144)
15 EVA_DECODE ss1592620866 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1615853080 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1658847113 Apr 01, 2015 (144)
18 HAMMER_LAB ss1804496794 Sep 08, 2015 (146)
19 WEILL_CORNELL_DGM ss1926335041 Feb 12, 2016 (147)
20 JJLAB ss2023809466 Sep 14, 2016 (149)
21 HUMAN_LONGEVITY ss2285019680 Dec 20, 2016 (150)
22 GRF ss2707609952 Nov 08, 2017 (151)
23 GNOMAD ss2840530699 Nov 08, 2017 (151)
24 SWEGEN ss2999304861 Nov 08, 2017 (151)
25 CSHL ss3347042801 Nov 08, 2017 (151)
26 EGCUT_WGS ss3667173873 Jul 13, 2019 (153)
27 EVA_DECODE ss3717486666 Jul 13, 2019 (153)
28 ACPOP ss3733629891 Jul 13, 2019 (153)
29 EVA ss3765184739 Jul 13, 2019 (153)
30 KHV_HUMAN_GENOMES ss3808333267 Jul 13, 2019 (153)
31 SGDP_PRJ ss3864870180 Apr 26, 2020 (154)
32 KRGDB ss3911736676 Apr 26, 2020 (154)
33 TOPMED ss4707805558 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5178122571 Apr 26, 2021 (155)
35 1000G_HIGH_COVERAGE ss5268941438 Oct 17, 2022 (156)
36 EVA ss5366485078 Oct 17, 2022 (156)
37 HUGCELL_USP ss5466536441 Oct 17, 2022 (156)
38 EVA ss5508552740 Oct 17, 2022 (156)
39 1000G_HIGH_COVERAGE ss5555126703 Oct 17, 2022 (156)
40 SANFORD_IMAGENETICS ss5640683127 Oct 17, 2022 (156)
41 TOMMO_GENOMICS ss5716488180 Oct 17, 2022 (156)
42 YY_MCH ss5807602454 Oct 17, 2022 (156)
43 EVA ss5842444764 Oct 17, 2022 (156)
44 EVA ss5855411946 Oct 17, 2022 (156)
45 EVA ss5884354167 Oct 17, 2022 (156)
46 EVA ss5969177628 Oct 17, 2022 (156)
47 1000Genomes NC_000006.11 - 72206037 Oct 12, 2018 (152)
48 1000Genomes_30x NC_000006.12 - 71496334 Oct 17, 2022 (156)
49 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 72206037 Oct 12, 2018 (152)
50 Genetic variation in the Estonian population NC_000006.11 - 72206037 Oct 12, 2018 (152)
51 The Danish reference pan genome NC_000006.11 - 72206037 Apr 26, 2020 (154)
52 gnomAD - Genomes NC_000006.12 - 71496334 Apr 26, 2021 (155)
53 Genome of the Netherlands Release 5 NC_000006.11 - 72206037 Apr 26, 2020 (154)
54 HapMap NC_000006.12 - 71496334 Apr 26, 2020 (154)
55 KOREAN population from KRGDB NC_000006.11 - 72206037 Apr 26, 2020 (154)
56 Northern Sweden NC_000006.11 - 72206037 Jul 13, 2019 (153)
57 Qatari NC_000006.11 - 72206037 Apr 26, 2020 (154)
58 SGDP_PRJ NC_000006.11 - 72206037 Apr 26, 2020 (154)
59 8.3KJPN NC_000006.11 - 72206037 Apr 26, 2021 (155)
60 14KJPN NC_000006.12 - 71496334 Oct 17, 2022 (156)
61 TopMed NC_000006.12 - 71496334 Apr 26, 2021 (155)
62 UK 10K study - Twins NC_000006.11 - 72206037 Oct 12, 2018 (152)
63 A Vietnamese Genetic Variation Database NC_000006.11 - 72206037 Jul 13, 2019 (153)
64 ALFA NC_000006.12 - 71496334 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss163698497, ss202003138, ss211861312, ss1592620866 NC_000006.10:72262757:T:C NC_000006.12:71496333:T:C (self)
32487950, 18100549, 12912121, 7897026, 8063975, 18914070, 6914756, 8376971, 16887160, 36091878, 18100549, 4020846, ss222463906, ss233528959, ss559284113, ss653240485, ss983078591, ss1073720446, ss1320679810, ss1430776047, ss1581732087, ss1615853080, ss1658847113, ss1804496794, ss1926335041, ss2023809466, ss2707609952, ss2840530699, ss2999304861, ss3347042801, ss3667173873, ss3733629891, ss3765184739, ss3864870180, ss3911736676, ss5178122571, ss5366485078, ss5508552740, ss5640683127, ss5842444764, ss5969177628 NC_000006.11:72206036:T:C NC_000006.12:71496333:T:C (self)
42652638, 229297677, 3161100, 50325284, 545183116, 15466192557, ss2285019680, ss3717486666, ss3808333267, ss4707805558, ss5268941438, ss5466536441, ss5555126703, ss5716488180, ss5807602454, ss5855411946, ss5884354167 NC_000006.12:71496333:T:C NC_000006.12:71496333:T:C (self)
ss13053131 NT_007299.12:10026209:T:C NC_000006.12:71496333:T:C (self)
ss410867338 NT_007299.13:10325870:T:C NC_000006.12:71496333:T: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 rs9442674

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