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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:191436777 (GRCh38.p13) 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.

A>C / A>T
Variation Type
SNV Single Nucleotide Variation
T=0.022487 (5952/264690, TOPMED)
T=0.018931 (2628/138818, GnomAD)
T=0.00466 (86/18456, ALFA) (+ 9 more)
T=0.06533 (1094/16746, 8.3KJPN)
T=0.0371 (186/5008, 1000G)
T=0.0907 (265/2922, KOREAN)
T=0.010 (10/998, GoNL)
T=0.065 (14/216, Qatari)
A=0.48 (25/52, SGDP_PRJ)
T=0.03 (1/40, GENOME_DK)
A=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18456 A=0.99534 C=0.00000, T=0.00466
European Sub 14088 A=0.99581 C=0.00000, T=0.00419
African Sub 2792 A=0.9925 C=0.0000, T=0.0075
African Others Sub 106 A=0.991 C=0.000, T=0.009
African American Sub 2686 A=0.9926 C=0.0000, T=0.0074
Asian Sub 100 A=1.00 C=0.00, T=0.00
East Asian Sub 78 A=1.00 C=0.00, T=0.00
Other Asian Sub 22 A=1.00 C=0.00, T=0.00
Latin American 1 Sub 144 A=1.000 C=0.000, T=0.000
Latin American 2 Sub 576 A=1.000 C=0.000, T=0.000
South Asian Sub 84 A=1.00 C=0.00, T=0.00
Other Sub 672 A=0.991 C=0.000, T=0.009


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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.977513 T=0.022487
gnomAD - Genomes Global Study-wide 138818 A=0.981069 T=0.018931
gnomAD - Genomes European Sub 75022 A=0.98912 T=0.01088
gnomAD - Genomes African Sub 41708 A=0.96806 T=0.03194
gnomAD - Genomes American Sub 13544 A=0.98376 T=0.01624
gnomAD - Genomes Ashkenazi Jewish Sub 3310 A=0.9991 T=0.0009
gnomAD - Genomes East Asian Sub 3114 A=0.9303 T=0.0697
gnomAD - Genomes Other Sub 2120 A=0.9811 T=0.0189
8.3KJPN JAPANESE Study-wide 16746 A=0.93467 T=0.06533
1000Genomes Global Study-wide 5008 A=0.9629 T=0.0371
1000Genomes African Sub 1322 A=0.9705 T=0.0295
1000Genomes East Asian Sub 1008 A=0.9444 T=0.0556
1000Genomes Europe Sub 1006 A=0.9911 T=0.0089
1000Genomes South Asian Sub 978 A=0.929 T=0.071
1000Genomes American Sub 694 A=0.981 T=0.019
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9093 T=0.0907
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.990 T=0.010
Qatari Global Study-wide 216 A=0.935 T=0.065
SGDP_PRJ Global Study-wide 52 A=0.48 T=0.52
The Danish reference pan genome Danish Study-wide 40 A=0.97 T=0.03
Siberian Global Study-wide 2 A=0.5 T=0.5

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.p13 chr 1 NC_000001.11:g.191436777A>C
GRCh38.p13 chr 1 NC_000001.11:g.191436777A>T
GRCh37.p13 chr 1 NC_000001.10:g.191405907A>C
GRCh37.p13 chr 1 NC_000001.10:g.191405907A>T

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

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 A= C T
GRCh38.p13 chr 1 NC_000001.11:g.191436777= NC_000001.11:g.191436777A>C NC_000001.11:g.191436777A>T
GRCh37.p13 chr 1 NC_000001.10:g.191405907= NC_000001.10:g.191405907A>C NC_000001.10:g.191405907A>T

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#.

25 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13405790 Dec 05, 2003 (119)
2 SC_SNP ss19058881 Feb 28, 2004 (126)
3 1000GENOMES ss218790305 Jul 14, 2010 (132)
4 1000GENOMES ss238459090 Jul 15, 2010 (132)
5 GMI ss276149622 May 04, 2012 (137)
6 EVA-GONL ss975953920 Aug 21, 2014 (142)
7 JMKIDD_LAB ss1068467302 Aug 21, 2014 (142)
8 1000GENOMES ss1293950497 Aug 21, 2014 (142)
9 EVA_GENOME_DK ss1574563903 Apr 01, 2015 (144)
10 WEILL_CORNELL_DGM ss1919188464 Feb 12, 2016 (147)
11 JJLAB ss2020111635 Sep 14, 2016 (149)
12 USC_VALOUEV ss2148138769 Dec 20, 2016 (150)
13 HUMAN_LONGEVITY ss2168650972 Dec 20, 2016 (150)
14 TOPMED ss2331217467 Dec 20, 2016 (150)
15 GRF ss2698125348 Nov 08, 2017 (151)
16 GNOMAD ss2764223617 Nov 08, 2017 (151)
17 SWEGEN ss2988163197 Nov 08, 2017 (151)
18 TOPMED ss3098807805 Nov 08, 2017 (151)
19 EVA_DECODE ss3688281410 Jul 12, 2019 (153)
20 EVA ss3747120007 Jul 12, 2019 (153)
21 KHV_HUMAN_GENOMES ss3800124691 Jul 12, 2019 (153)
22 SGDP_PRJ ss3850535021 Apr 25, 2020 (154)
23 KRGDB ss3895806730 Apr 25, 2020 (154)
24 TOPMED ss4477366691 Apr 25, 2021 (155)
25 TOMMO_GENOMICS ss5147634897 Apr 25, 2021 (155)
26 1000Genomes NC_000001.10 - 191405907 Oct 11, 2018 (152)
27 The Danish reference pan genome NC_000001.10 - 191405907 Apr 25, 2020 (154)
28 gnomAD - Genomes NC_000001.11 - 191436777 Apr 25, 2021 (155)
29 Genome of the Netherlands Release 5 NC_000001.10 - 191405907 Apr 25, 2020 (154)
30 KOREAN population from KRGDB NC_000001.10 - 191405907 Apr 25, 2020 (154)
31 Qatari NC_000001.10 - 191405907 Apr 25, 2020 (154)
32 SGDP_PRJ NC_000001.10 - 191405907 Apr 25, 2020 (154)
33 Siberian NC_000001.10 - 191405907 Apr 25, 2020 (154)
34 8.3KJPN NC_000001.10 - 191405907 Apr 25, 2021 (155)
35 TopMed NC_000001.11 - 191436777 Apr 25, 2021 (155)
36 ALFA NC_000001.11 - 191436777 Apr 25, 2021 (155)

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)
rs12380996 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9684420311 NC_000001.11:191436776:A:C NC_000001.11:191436776:A:C
ss276149622 NC_000001.9:189672529:A:T NC_000001.11:191436776:A:T (self)
4779368, 1813489, 1142487, 2984124, 1230394, 2552001, 655123, 5604204, ss218790305, ss238459090, ss975953920, ss1068467302, ss1293950497, ss1574563903, ss1919188464, ss2020111635, ss2148138769, ss2331217467, ss2698125348, ss2764223617, ss2988163197, ss3747120007, ss3850535021, ss3895806730, ss5147634897 NC_000001.10:191405906:A:T NC_000001.11:191436776:A:T (self)
34466348, 25734592, 40973026, 9684420311, ss2168650972, ss3098807805, ss3688281410, ss3800124691, ss4477366691 NC_000001.11:191436776:A:T NC_000001.11:191436776:A:T (self)
ss19058881 NT_004487.19:42894548:A:T NC_000001.11:191436776:A:T (self)
ss13405790 NT_004671.15:2760892:A:T NC_000001.11:191436776:A:T (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs9633350


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.post629+eb05767