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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
chr1:261424 (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.

T>A / T>G
Variation Type
SNV Single Nucleotide Variation
G=0.22672 (3798/16752, 8.3KJPN)
G=0.0836 (654/7822, ALFA)
G=0.3998 (1149/2874, KOREAN) (+ 3 more)
T=0.491 (173/352, SGDP_PRJ)
T=0.50 (6/12, Qatari)
G=0.50 (6/12, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC100996442 : 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 1 NC_000001.11:g.261424T>A
GRCh38.p13 chr 1 NC_000001.11:g.261424T>G
GRCh37.p13 chr 1 NC_000001.10:g.231175T>A
GRCh37.p13 chr 1 NC_000001.10:g.231175T>G
Gene: LOC100996442, uncharacterized LOC100996442 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100996442 transcript variant X12 XR_001737582.2:n. N/A Intron Variant
LOC100996442 transcript variant X4 XR_001737578.2:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X5 XR_001737579.2:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X8 XR_001737580.2:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X11 XR_001737581.2:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X13 XR_001737583.2:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X14 XR_001737584.2:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X1 XR_002958514.1:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X2 XR_002958515.1:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X3 XR_002958516.1:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X6 XR_002958517.1:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X7 XR_002958518.1:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X9 XR_002958519.1:n. N/A Genic Upstream Transcript Variant
LOC100996442 transcript variant X10 XR_002958520.1:n. N/A Genic Upstream Transcript 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 7822 T=0.9164 A=0.0000, G=0.0836
European Sub 7154 T=0.9090 A=0.0000, G=0.0910
African Sub 268 T=1.000 A=0.000, G=0.000
African Others Sub 10 T=1.0 A=0.0, G=0.0
African American Sub 258 T=1.000 A=0.000, G=0.000
Asian Sub 22 T=1.00 A=0.00, G=0.00
East Asian Sub 20 T=1.00 A=0.00, G=0.00
Other Asian Sub 2 T=1.0 A=0.0, G=0.0
Latin American 1 Sub 48 T=1.00 A=0.00, G=0.00
Latin American 2 Sub 160 T=1.000 A=0.000, G=0.000
South Asian Sub 38 T=1.00 A=0.00, G=0.00
Other Sub 132 T=0.977 A=0.000, G=0.023


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
8.3KJPN JAPANESE Study-wide 16752 T=0.77328 G=0.22672
KOREAN population from KRGDB KOREAN Study-wide 2874 T=0.6002 G=0.3998
SGDP_PRJ Global Study-wide 352 T=0.491 G=0.509
Qatari Global Study-wide 12 T=0.50 G=0.50

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 G
GRCh38.p13 chr 1 NC_000001.11:g.261424= NC_000001.11:g.261424T>A NC_000001.11:g.261424T>G
GRCh37.p13 chr 1 NC_000001.10:g.231175= NC_000001.10:g.231175T>A NC_000001.10:g.231175T>G

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#.

12 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13896161 Dec 05, 2003 (119)
2 GMI ss283987253 Apr 25, 2013 (142)
3 SSMP ss647515165 Apr 25, 2013 (142)
4 PADH-LAB_SPU ss1751134668 Sep 08, 2015 (146)
5 WEILL_CORNELL_DGM ss1917958832 Feb 12, 2016 (147)
6 GRF ss2697373349 Nov 08, 2017 (151)
7 GNOMAD ss2750613484 Nov 08, 2017 (151)
8 SWEGEN ss2986143872 Nov 08, 2017 (151)
9 TOPMED ss3066345832 Nov 08, 2017 (151)
10 SGDP_PRJ ss3847987060 Apr 25, 2020 (154)
11 KRGDB ss3892826956 Apr 25, 2020 (154)
12 TOMMO_GENOMICS ss5142038759 Apr 25, 2021 (155)
13 KOREAN population from KRGDB NC_000001.10 - 231175 Apr 25, 2020 (154)
14 Qatari NC_000001.10 - 231175 Apr 25, 2020 (154)
15 SGDP_PRJ NC_000001.10 - 231175 Apr 25, 2020 (154)
16 8.3KJPN NC_000001.10 - 231175 Apr 25, 2021 (155)
17 ALFA NC_000001.11 - 261424 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)
rs375118149 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
5615171778 NC_000001.11:261423:T:A NC_000001.11:261423:T:A
ss283987253 NC_000001.9:221037:T:G NC_000001.11:261423:T:G (self)
4350, 762, 4040, 8066, ss647515165, ss1751134668, ss1917958832, ss2697373349, ss2750613484, ss2986143872, ss3847987060, ss3892826956, ss5142038759 NC_000001.10:231174:T:G NC_000001.11:261423:T:G (self)
5615171778, ss3066345832 NC_000001.11:261423:T:G NC_000001.11:261423:T:G (self)
ss13896161 NT_077911.1:3757:T:G NC_000001.11:261423:T:G (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 rs10047118


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