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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.

rs9995376

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:127068084 (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>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.096422 (25522/264690, TOPMED)
T=0.00035 (10/28258, 14KJPN)
T=0.00036 (6/16760, 8.3KJPN) (+ 10 more)
G=0.41725 (5920/14188, ALFA)
T=0.0626 (401/6404, 1000G_30x)
T=0.0623 (312/5008, 1000G)
T=0.1152 (516/4480, Estonian)
T=0.0051 (15/2930, KOREAN)
T=0.078 (47/600, NorthernSweden)
T=0.040 (22/554, SGDP_PRJ)
T=0.088 (19/216, Qatari)
T=0.07 (3/40, GENOME_DK)
T=0.11 (4/36, 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 14188 T=0.58275 A=0.00000, C=0.00000, G=0.41725
European Sub 13894 T=0.58176 A=0.00000, C=0.00000, G=0.41824
African Sub 136 T=0.463 A=0.000, C=0.000, G=0.537
African Others Sub 6 T=0.2 A=0.0, C=0.0, G=0.8
African American Sub 130 T=0.477 A=0.000, C=0.000, G=0.523
Asian Sub 48 T=0.92 A=0.00, C=0.00, G=0.08
East Asian Sub 46 T=0.96 A=0.00, C=0.00, G=0.04
Other Asian Sub 2 T=0.0 A=0.0, C=0.0, G=1.0
Latin American 1 Sub 2 T=1.0 A=0.0, C=0.0, G=0.0
Latin American 2 Sub 0 T=0 A=0, C=0, G=0
South Asian Sub 4 T=0.2 A=0.0, C=0.0, G=0.8
Other Sub 104 T=0.721 A=0.000, C=0.000, G=0.279


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=0.096422 G=0.903578
14KJPN JAPANESE Study-wide 28258 T=0.00035 G=0.99965
8.3KJPN JAPANESE Study-wide 16760 T=0.00036 G=0.99964
Allele Frequency Aggregator Total Global 14188 T=0.58275 A=0.00000, C=0.00000, G=0.41725
Allele Frequency Aggregator European Sub 13894 T=0.58176 A=0.00000, C=0.00000, G=0.41824
Allele Frequency Aggregator African Sub 136 T=0.463 A=0.000, C=0.000, G=0.537
Allele Frequency Aggregator Other Sub 104 T=0.721 A=0.000, C=0.000, G=0.279
Allele Frequency Aggregator Asian Sub 48 T=0.92 A=0.00, C=0.00, G=0.08
Allele Frequency Aggregator South Asian Sub 4 T=0.2 A=0.0, C=0.0, G=0.8
Allele Frequency Aggregator Latin American 1 Sub 2 T=1.0 A=0.0, C=0.0, G=0.0
Allele Frequency Aggregator Latin American 2 Sub 0 T=0 A=0, C=0, G=0
1000Genomes_30x Global Study-wide 6404 T=0.0626 G=0.9374
1000Genomes_30x African Sub 1786 T=0.1114 G=0.8886
1000Genomes_30x Europe Sub 1266 T=0.0821 G=0.9179
1000Genomes_30x South Asian Sub 1202 T=0.0333 G=0.9667
1000Genomes_30x East Asian Sub 1170 T=0.0026 G=0.9974
1000Genomes_30x American Sub 980 T=0.056 G=0.944
1000Genomes Global Study-wide 5008 T=0.0623 G=0.9377
1000Genomes African Sub 1322 T=0.1142 G=0.8858
1000Genomes East Asian Sub 1008 T=0.0020 G=0.9980
1000Genomes Europe Sub 1006 T=0.0845 G=0.9155
1000Genomes South Asian Sub 978 T=0.036 G=0.964
1000Genomes American Sub 694 T=0.056 G=0.944
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.1152 G=0.8848
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0051 A=0.0000, C=0.0000, G=0.9949
Northern Sweden ACPOP Study-wide 600 T=0.078 G=0.922
SGDP_PRJ Global Study-wide 554 T=0.040 G=0.960
Qatari Global Study-wide 216 T=0.088 G=0.912
The Danish reference pan genome Danish Study-wide 40 T=0.07 G=0.93
Siberian Global Study-wide 36 T=0.11 G=0.89
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 4 NC_000004.12:g.127068084T>A
GRCh38.p14 chr 4 NC_000004.12:g.127068084T>C
GRCh38.p14 chr 4 NC_000004.12:g.127068084T>G
GRCh37.p13 chr 4 NC_000004.11:g.127989239T>A
GRCh37.p13 chr 4 NC_000004.11:g.127989239T>C
GRCh37.p13 chr 4 NC_000004.11:g.127989239T>G
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= A C G
GRCh38.p14 chr 4 NC_000004.12:g.127068084= NC_000004.12:g.127068084T>A NC_000004.12:g.127068084T>C NC_000004.12:g.127068084T>G
GRCh37.p13 chr 4 NC_000004.11:g.127989239= NC_000004.11:g.127989239T>A NC_000004.11:g.127989239T>C NC_000004.11:g.127989239T>G
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#.

54 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13840825 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss20190848 Feb 28, 2004 (126)
3 SSAHASNP ss22075945 Apr 05, 2004 (126)
4 ABI ss42235157 Mar 13, 2006 (126)
5 HGSV ss78015493 Dec 07, 2007 (129)
6 HGSV ss78464685 Dec 07, 2007 (129)
7 HGSV ss84075221 Dec 15, 2007 (130)
8 HUMANGENOME_JCVI ss98861896 Feb 05, 2009 (130)
9 ENSEMBL ss135144299 Dec 01, 2009 (147)
10 GMI ss157883473 Dec 01, 2009 (147)
11 BUSHMAN ss199152854 Jul 04, 2010 (142)
12 BL ss253506309 May 09, 2011 (134)
13 GMI ss277921944 May 04, 2012 (137)
14 GMI ss285002843 Apr 25, 2013 (138)
15 PJP ss293184572 May 09, 2011 (134)
16 1000GENOMES ss457449868 Sep 17, 2011 (135)
17 EVA-GONL ss980658180 Aug 21, 2014 (142)
18 1000GENOMES ss1311738060 Aug 21, 2014 (142)
19 DDI ss1430044843 Apr 01, 2015 (144)
20 EVA_GENOME_DK ss1580769834 Apr 01, 2015 (144)
21 EVA_DECODE ss1590166900 Apr 01, 2015 (144)
22 WEILL_CORNELL_DGM ss1923901776 Feb 12, 2016 (147)
23 USC_VALOUEV ss2150665826 Dec 20, 2016 (150)
24 SYSTEMSBIOZJU ss2625764680 Nov 08, 2017 (151)
25 GRF ss2706150763 Nov 08, 2017 (151)
26 ILLUMINA ss2711015829 Nov 08, 2017 (151)
27 GNOMAD ss2815036461 Nov 08, 2017 (151)
28 SWEGEN ss2995524427 Nov 08, 2017 (151)
29 CSHL ss3345954355 Nov 08, 2017 (151)
30 URBANLAB ss3647845240 Oct 12, 2018 (152)
31 EGCUT_WGS ss3663430236 Jul 13, 2019 (153)
32 ACPOP ss3731593803 Jul 13, 2019 (153)
33 EVA ss3762389722 Jul 13, 2019 (153)
34 PACBIO ss3784856220 Jul 13, 2019 (153)
35 PACBIO ss3790292963 Jul 13, 2019 (153)
36 PACBIO ss3795168437 Jul 13, 2019 (153)
37 KHV_HUMAN_GENOMES ss3805546812 Jul 13, 2019 (153)
38 EVA ss3828801548 Apr 26, 2020 (154)
39 EVA ss3837846289 Apr 26, 2020 (154)
40 EVA ss3843285613 Apr 26, 2020 (154)
41 SGDP_PRJ ss3860014927 Apr 26, 2020 (154)
42 KRGDB ss3906320079 Apr 26, 2020 (154)
43 TOPMED ss4631333093 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5167917266 Apr 26, 2021 (155)
45 1000G_HIGH_COVERAGE ss5260954958 Oct 13, 2022 (156)
46 EVA ss5352174667 Oct 13, 2022 (156)
47 EVA ss5507725234 Oct 13, 2022 (156)
48 1000G_HIGH_COVERAGE ss5542982963 Oct 13, 2022 (156)
49 SANFORD_IMAGENETICS ss5636053267 Oct 13, 2022 (156)
50 TOMMO_GENOMICS ss5702883726 Oct 13, 2022 (156)
51 YY_MCH ss5805517998 Oct 13, 2022 (156)
52 EVA ss5844687916 Oct 13, 2022 (156)
53 EVA ss5865430718 Oct 13, 2022 (156)
54 EVA ss5964458076 Oct 13, 2022 (156)
55 1000Genomes NC_000004.11 - 127989239 Oct 12, 2018 (152)
56 1000Genomes_30x NC_000004.12 - 127068084 Oct 13, 2022 (156)
57 Genetic variation in the Estonian population NC_000004.11 - 127989239 Oct 12, 2018 (152)
58 The Danish reference pan genome NC_000004.11 - 127989239 Apr 26, 2020 (154)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 164408159 (NC_000004.12:127068083:T:A 3/140248)
Row 164408160 (NC_000004.12:127068083:T:C 3/140248)
Row 164408161 (NC_000004.12:127068083:T:G 126108/140228)

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

Submission ignored due to conflicting rows:
Row 164408159 (NC_000004.12:127068083:T:A 3/140248)
Row 164408160 (NC_000004.12:127068083:T:C 3/140248)
Row 164408161 (NC_000004.12:127068083:T:G 126108/140228)

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

Submission ignored due to conflicting rows:
Row 164408159 (NC_000004.12:127068083:T:A 3/140248)
Row 164408160 (NC_000004.12:127068083:T:C 3/140248)
Row 164408161 (NC_000004.12:127068083:T:G 126108/140228)

- Apr 26, 2021 (155)
62 KOREAN population from KRGDB NC_000004.11 - 127989239 Apr 26, 2020 (154)
63 Northern Sweden NC_000004.11 - 127989239 Jul 13, 2019 (153)
64 Qatari NC_000004.11 - 127989239 Apr 26, 2020 (154)
65 SGDP_PRJ NC_000004.11 - 127989239 Apr 26, 2020 (154)
66 Siberian NC_000004.11 - 127989239 Apr 26, 2020 (154)
67 8.3KJPN NC_000004.11 - 127989239 Apr 26, 2021 (155)
68 14KJPN NC_000004.12 - 127068084 Oct 13, 2022 (156)
69 TopMed NC_000004.12 - 127068084 Apr 26, 2021 (155)
70 ALFA NC_000004.12 - 127068084 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)
rs12640933 Mar 11, 2006 (126)
rs34292744 Oct 13, 2006 (127)
rs58511480 May 24, 2008 (130)
rs77995044 Jul 19, 2016 (147)
rs111835550 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13497473, ss3906320079 NC_000004.11:127989238:T:A NC_000004.12:127068083:T:A (self)
1614888754 NC_000004.12:127068083:T:A NC_000004.12:127068083:T:A (self)
13497473, ss3906320079 NC_000004.11:127989238:T:C NC_000004.12:127068083:T:C (self)
1614888754 NC_000004.12:127068083:T:C NC_000004.12:127068083:T:C (self)
ss78015493, ss78464685, ss84075221 NC_000004.9:128346843:T:G NC_000004.12:127068083:T:G (self)
ss199152854, ss253506309, ss277921944, ss285002843, ss293184572, ss1590166900 NC_000004.10:128208688:T:G NC_000004.12:127068083:T:G (self)
23210367, 9168484, 6934773, 13497473, 4878668, 5943706, 12031907, 3182180, 25886573, ss457449868, ss980658180, ss1311738060, ss1430044843, ss1580769834, ss1923901776, ss2150665826, ss2625764680, ss2706150763, ss2711015829, ss2815036461, ss2995524427, ss3345954355, ss3663430236, ss3731593803, ss3762389722, ss3784856220, ss3790292963, ss3795168437, ss3828801548, ss3837846289, ss3860014927, ss3906320079, ss5167917266, ss5352174667, ss5507725234, ss5636053267, ss5844687916, ss5964458076 NC_000004.11:127989238:T:G NC_000004.12:127068083:T:G (self)
30508898, 36720830, 468710649, 1614888754, ss3647845240, ss3805546812, ss3843285613, ss4631333093, ss5260954958, ss5542982963, ss5702883726, ss5805517998, ss5865430718 NC_000004.12:127068083:T:G NC_000004.12:127068083:T:G (self)
ss13840825, ss20190848, ss22075945 NT_016354.16:52484369:T:G NC_000004.12:127068083:T:G (self)
ss42235157, ss98861896, ss135144299, ss157883473 NT_016354.19:52536959:T:G NC_000004.12:127068083:T:G (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 rs9995376

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