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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs144936940

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:7283525 (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
G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000057 (15/264690, TOPMED)
T=0.000020 (5/251232, GnomAD_exome)
T=0.000018 (3/163760, ALFA) (+ 4 more)
T=0.000014 (2/140144, GnomAD)
T=0.000016 (2/121350, ExAC)
T=0.00008 (6/78698, PAGE_STUDY)
T=0.00015 (2/13006, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC2A4 : Missense Variant
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 180172 G=0.999978 T=0.000022
European Sub 156994 G=0.999994 T=0.000006
African Sub 9124 G=0.9997 T=0.0003
African Others Sub 352 G=1.000 T=0.000
African American Sub 8772 G=0.9997 T=0.0003
Asian Sub 3338 G=1.0000 T=0.0000
East Asian Sub 2686 G=1.0000 T=0.0000
Other Asian Sub 652 G=1.000 T=0.000
Latin American 1 Sub 442 G=1.000 T=0.000
Latin American 2 Sub 950 G=1.000 T=0.000
South Asian Sub 280 G=1.000 T=0.000
Other Sub 9044 G=1.0000 T=0.0000


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 G=0.999943 T=0.000057
gnomAD - Exomes Global Study-wide 251232 G=0.999980 T=0.000020
gnomAD - Exomes European Sub 135198 G=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49004 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34586 G=0.99994 T=0.00006
gnomAD - Exomes African Sub 16240 G=0.99982 T=0.00018
gnomAD - Exomes Ashkenazi Jewish Sub 10068 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6136 G=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 163760 G=0.999982 T=0.000018
Allele Frequency Aggregator European Sub 146854 G=0.999993 T=0.000007
Allele Frequency Aggregator Other Sub 7610 G=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 4286 G=0.9995 T=0.0005
Allele Frequency Aggregator Asian Sub 3338 G=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 950 G=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 442 G=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 280 G=1.000 T=0.000
gnomAD - Genomes Global Study-wide 140144 G=0.999986 T=0.000014
gnomAD - Genomes European Sub 75910 G=1.00000 T=0.00000
gnomAD - Genomes African Sub 41990 G=0.99995 T=0.00005
gnomAD - Genomes American Sub 13646 G=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3128 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2146 G=1.0000 T=0.0000
ExAC Global Study-wide 121350 G=0.999984 T=0.000016
ExAC Europe Sub 73320 G=1.00000 T=0.00000
ExAC Asian Sub 25158 G=1.00000 T=0.00000
ExAC American Sub 11576 G=1.00000 T=0.00000
ExAC African Sub 10388 G=0.99981 T=0.00019
ExAC Other Sub 908 G=1.000 T=0.000
The PAGE Study Global Study-wide 78698 G=0.99992 T=0.00008
The PAGE Study AfricanAmerican Sub 32514 G=0.99994 T=0.00006
The PAGE Study Mexican Sub 10810 G=1.00000 T=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 G=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 T=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 T=0.0000
The PAGE Study Dominican Sub 3826 G=0.9995 T=0.0005
The PAGE Study CentralAmerican Sub 2450 G=0.9996 T=0.0004
The PAGE Study SouthAmerican Sub 1982 G=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 G=0.999 T=0.001
GO Exome Sequencing Project Global Study-wide 13006 G=0.99985 T=0.00015
GO Exome Sequencing Project European American Sub 8600 G=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4406 G=0.9995 T=0.0005
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 17 NC_000017.11:g.7283525G>T
GRCh37.p13 chr 17 NC_000017.10:g.7186844G>T
SLC2A4 RefSeqGene NG_012127.1:g.6791G>T
GRCh38.p14 chr 17 fix patch HG2087_PATCH NW_021160020.1:g.38853G>T
Gene: SLC2A4, solute carrier family 2 member 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC2A4 transcript NM_001042.3:c.203G>T G [GGA] > V [GTA] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 4 NP_001033.1:p.Gly68Val G (Gly) > V (Val) Missense Variant
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 G= T
GRCh38.p14 chr 17 NC_000017.11:g.7283525= NC_000017.11:g.7283525G>T
GRCh37.p13 chr 17 NC_000017.10:g.7186844= NC_000017.10:g.7186844G>T
SLC2A4 RefSeqGene NG_012127.1:g.6791= NG_012127.1:g.6791G>T
SLC2A4 transcript NM_001042.3:c.203= NM_001042.3:c.203G>T
SLC2A4 transcript NM_001042.2:c.203= NM_001042.2:c.203G>T
GRCh38.p14 chr 17 fix patch HG2087_PATCH NW_021160020.1:g.38853= NW_021160020.1:g.38853G>T
solute carrier family 2, facilitated glucose transporter member 4 NP_001033.1:p.Gly68= NP_001033.1:p.Gly68Val
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#.

31 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342442607 May 09, 2011 (134)
2 EXOME_CHIP ss491516206 May 04, 2012 (137)
3 ILLUMINA ss780724264 Sep 08, 2015 (146)
4 ILLUMINA ss783400233 Sep 08, 2015 (146)
5 EVA_EXAC ss1692566331 Apr 01, 2015 (144)
6 ILLUMINA ss1752238884 Sep 08, 2015 (146)
7 ILLUMINA ss1917913861 Feb 12, 2016 (147)
8 ILLUMINA ss1946427181 Feb 12, 2016 (147)
9 ILLUMINA ss1959720419 Feb 12, 2016 (147)
10 HUMAN_LONGEVITY ss2215295612 Dec 20, 2016 (150)
11 GNOMAD ss2742389605 Nov 08, 2017 (151)
12 GNOMAD ss2749673760 Nov 08, 2017 (151)
13 GNOMAD ss2947401312 Nov 08, 2017 (151)
14 AFFY ss2985084346 Nov 08, 2017 (151)
15 ILLUMINA ss3021751443 Nov 08, 2017 (151)
16 ILLUMINA ss3625703705 Oct 12, 2018 (152)
17 ILLUMINA ss3627619208 Oct 12, 2018 (152)
18 ILLUMINA ss3634662949 Oct 12, 2018 (152)
19 ILLUMINA ss3640370268 Oct 12, 2018 (152)
20 ILLUMINA ss3644680258 Oct 12, 2018 (152)
21 ILLUMINA ss3652164228 Oct 12, 2018 (152)
22 ILLUMINA ss3653856625 Oct 12, 2018 (152)
23 ILLUMINA ss3725599322 Jul 13, 2019 (153)
24 ILLUMINA ss3744438853 Jul 13, 2019 (153)
25 ILLUMINA ss3744963294 Jul 13, 2019 (153)
26 PAGE_CC ss3771910200 Jul 13, 2019 (153)
27 ILLUMINA ss3772461353 Jul 13, 2019 (153)
28 EVA ss3825071144 Apr 27, 2020 (154)
29 TOPMED ss5028567775 Apr 27, 2021 (155)
30 EVA ss5847787492 Oct 16, 2022 (156)
31 EVA ss5951081531 Oct 16, 2022 (156)
32 ExAC NC_000017.10 - 7186844 Oct 12, 2018 (152)
33 gnomAD - Genomes NC_000017.11 - 7283525 Apr 27, 2021 (155)
34 gnomAD - Exomes NC_000017.10 - 7186844 Jul 13, 2019 (153)
35 GO Exome Sequencing Project NC_000017.10 - 7186844 Oct 12, 2018 (152)
36 The PAGE Study NC_000017.11 - 7283525 Jul 13, 2019 (153)
37 TopMed NC_000017.11 - 7283525 Apr 27, 2021 (155)
38 ALFA NC_000017.11 - 7283525 Apr 27, 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
2993076, 11687300, 1528273, ss342442607, ss491516206, ss780724264, ss783400233, ss1692566331, ss1752238884, ss1917913861, ss1946427181, ss1959720419, ss2742389605, ss2749673760, ss2947401312, ss2985084346, ss3021751443, ss3625703705, ss3627619208, ss3634662949, ss3640370268, ss3644680258, ss3652164228, ss3653856625, ss3744438853, ss3744963294, ss3772461353, ss3825071144, ss5847787492, ss5951081531 NC_000017.10:7186843:G:T NC_000017.11:7283524:G:T (self)
500730577, 1131669, 244113437, 7245886678, ss2215295612, ss3725599322, ss3771910200, ss5028567775 NC_000017.11:7283524:G:T NC_000017.11:7283524:G:T (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 rs144936940

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