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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
chr19:23527110 (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.

Variation Type
SNV Single Nucleotide Variation
T=0.003974 (1052/264690, TOPMED)
T=0.002275 (319/140218, GnomAD)
T=0.00067 (17/25238, ALFA) (+ 12 more)
T=0.06498 (1089/16760, 8.3KJPN)
T=0.0180 (90/5008, 1000G)
T=0.0013 (5/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0897 (262/2922, KOREAN)
T=0.1037 (190/1832, Korea1K)
T=0.005 (1/216, Qatari)
T=0.136 (29/214, Vietnamese)
C=0.50 (7/14, SGDP_PRJ)
T=0.50 (7/14, SGDP_PRJ)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105372337 : Intron Variant
0 citations
Genomic View
See rs on genome

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 19 NC_000019.10:g.23527110C>T
GRCh37.p13 chr 19 NC_000019.9:g.23709912C>T
Gene: LOC105372337, uncharacterized LOC105372337 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105372337 transcript XR_936485.2:n. N/A Intron Variant

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

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 25238 C=0.99933 T=0.00067
European Sub 20132 C=0.99995 T=0.00005
African Sub 3114 C=0.9994 T=0.0006
African Others Sub 124 C=1.000 T=0.000
African American Sub 2990 C=0.9993 T=0.0007
Asian Sub 122 C=0.943 T=0.057
East Asian Sub 96 C=0.94 T=0.06
Other Asian Sub 26 C=0.96 T=0.04
Latin American 1 Sub 156 C=1.000 T=0.000
Latin American 2 Sub 678 C=0.999 T=0.001
South Asian Sub 114 C=1.000 T=0.000
Other Sub 922 C=0.993 T=0.007


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 C=0.996026 T=0.003974
gnomAD - Genomes Global Study-wide 140218 C=0.997725 T=0.002275
gnomAD - Genomes European Sub 75936 C=0.99987 T=0.00013
gnomAD - Genomes African Sub 42034 C=0.99891 T=0.00109
gnomAD - Genomes American Sub 13646 C=0.99985 T=0.00015
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9988 T=0.0012
gnomAD - Genomes East Asian Sub 3130 C=0.9211 T=0.0789
gnomAD - Genomes Other Sub 2148 C=0.9953 T=0.0047
8.3KJPN JAPANESE Study-wide 16760 C=0.93502 T=0.06498
1000Genomes Global Study-wide 5008 C=0.9820 T=0.0180
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=0.9216 T=0.0784
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=0.989 T=0.011
1000Genomes American Sub 694 C=1.000 T=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9987 T=0.0013
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=1.0000 T=0.0000
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9103 T=0.0897
Korean Genome Project KOREAN Study-wide 1832 C=0.8963 T=0.1037
Qatari Global Study-wide 216 C=0.995 T=0.005
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.864 T=0.136
SGDP_PRJ Global Study-wide 14 C=0.50 T=0.50
Siberian Global Study-wide 2 C=0.5 T=0.5

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= T
GRCh38.p13 chr 19 NC_000019.10:g.23527110= NC_000019.10:g.23527110C>T
GRCh37.p13 chr 19 NC_000019.9:g.23709912= NC_000019.9:g.23709912C>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#.

31 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss243852433 Jul 15, 2010 (132)
2 GMI ss283162707 May 04, 2012 (137)
3 ILLUMINA ss482353112 May 04, 2012 (137)
4 ILLUMINA ss483807349 May 04, 2012 (137)
5 ILLUMINA ss534611826 Sep 08, 2015 (146)
6 SSMP ss661776317 Apr 25, 2013 (138)
7 ILLUMINA ss779121504 Sep 08, 2015 (146)
8 ILLUMINA ss781733385 Sep 08, 2015 (146)
9 ILLUMINA ss834585859 Sep 08, 2015 (146)
10 1000GENOMES ss1362749413 Aug 21, 2014 (142)
11 EVA_UK10K_ALSPAC ss1637756710 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1680750743 Apr 01, 2015 (144)
13 WEILL_CORNELL_DGM ss1937682955 Feb 12, 2016 (147)
14 USC_VALOUEV ss2158149086 Dec 20, 2016 (150)
15 HUMAN_LONGEVITY ss2225027666 Dec 20, 2016 (150)
16 TOPMED ss2390596120 Dec 20, 2016 (150)
17 ILLUMINA ss2633528480 Nov 08, 2017 (151)
18 GRF ss2702752526 Nov 08, 2017 (151)
19 GNOMAD ss2961633644 Nov 08, 2017 (151)
20 SWEGEN ss3017282165 Nov 08, 2017 (151)
21 TOPMED ss3290534520 Nov 08, 2017 (151)
22 ILLUMINA ss3627910587 Oct 12, 2018 (152)
23 ILLUMINA ss3631500706 Oct 12, 2018 (152)
24 EVA_DECODE ss3702556970 Jul 13, 2019 (153)
25 EVA ss3755933277 Jul 13, 2019 (153)
26 KHV_HUMAN_GENOMES ss3821188990 Jul 13, 2019 (153)
27 SGDP_PRJ ss3887989076 Apr 27, 2020 (154)
28 KRGDB ss3938022225 Apr 27, 2020 (154)
29 KOGIC ss3981071206 Apr 27, 2020 (154)
30 TOPMED ss5071328735 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5227247462 Apr 26, 2021 (155)
32 1000Genomes NC_000019.9 - 23709912 Oct 12, 2018 (152)
33 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 23709912 Oct 12, 2018 (152)
34 gnomAD - Genomes NC_000019.10 - 23527110 Apr 26, 2021 (155)
35 KOREAN population from KRGDB NC_000019.9 - 23709912 Apr 27, 2020 (154)
36 Korean Genome Project NC_000019.10 - 23527110 Apr 27, 2020 (154)
37 Qatari NC_000019.9 - 23709912 Apr 27, 2020 (154)
38 SGDP_PRJ NC_000019.9 - 23709912 Apr 27, 2020 (154)
39 Siberian NC_000019.9 - 23709912 Apr 27, 2020 (154)
40 8.3KJPN NC_000019.9 - 23709912 Apr 26, 2021 (155)
41 TopMed NC_000019.10 - 23527110 Apr 26, 2021 (155)
42 UK 10K study - Twins NC_000019.9 - 23709912 Oct 12, 2018 (152)
43 A Vietnamese Genetic Variation Database NC_000019.9 - 23709912 Jul 13, 2019 (153)
44 ALFA NC_000019.10 - 23527110 Apr 26, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss283162707, ss483807349 NC_000019.8:23501751:C:T NC_000019.10:23527109:C:T (self)
76142902, 42176633, 45199619, 19724877, 40006056, 10665440, 85216769, 42176633, 9319718, ss243852433, ss482353112, ss534611826, ss661776317, ss779121504, ss781733385, ss834585859, ss1362749413, ss1637756710, ss1680750743, ss1937682955, ss2158149086, ss2390596120, ss2633528480, ss2702752526, ss2961633644, ss3017282165, ss3627910587, ss3631500706, ss3755933277, ss3887989076, ss3938022225, ss5227247462 NC_000019.9:23709911:C:T NC_000019.10:23527109:C:T (self)
537009088, 37449207, 178985349, 286874399, 11116626489, ss2225027666, ss3290534520, ss3702556970, ss3821188990, ss3981071206, ss5071328735 NC_000019.10:23527109:C:T NC_000019.10:23527109:C: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 rs117920382


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.post596+ae089ad