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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.

rs121908172

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:46726312 (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>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000015 (4/264690, TOPMED)
T=0.000004 (1/243884, GnomAD_exome)
T=0.000036 (5/140254, GnomAD) (+ 4 more)
T=0.000026 (3/116638, ExAC)
T=0.00000 (0/78698, PAGE_STUDY)
T=0.00014 (2/14710, ALFA)
T=0.001 (1/998, GoNL)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLC2A10 : Missense Variant
Publications
1 citation
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 14710 G=0.99986 T=0.00014
European Sub 9768 G=0.9998 T=0.0002
African Sub 3332 G=1.0000 T=0.0000
African Others Sub 114 G=1.000 T=0.000
African American Sub 3218 G=1.0000 T=0.0000
Asian Sub 146 G=1.000 T=0.000
East Asian Sub 120 G=1.000 T=0.000
Other Asian Sub 26 G=1.00 T=0.00
Latin American 1 Sub 146 G=1.000 T=0.000
Latin American 2 Sub 610 G=1.000 T=0.000
South Asian Sub 104 G=1.000 T=0.000
Other Sub 604 G=1.000 T=0.000


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=0.999985 T=0.000015
gnomAD - Exomes Global Study-wide 243884 G=0.999996 T=0.000004
gnomAD - Exomes European Sub 128582 G=0.999992 T=0.000008
gnomAD - Exomes Asian Sub 48964 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34550 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 15738 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10004 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6046 G=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140254 G=0.999964 T=0.000036
gnomAD - Genomes European Sub 75964 G=0.99993 T=0.00007
gnomAD - Genomes African Sub 42030 G=1.00000 T=0.00000
gnomAD - Genomes American Sub 13654 G=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2148 G=1.0000 T=0.0000
ExAC Global Study-wide 116638 G=0.999974 T=0.000026
ExAC Europe Sub 70164 G=0.99996 T=0.00004
ExAC Asian Sub 24820 G=1.00000 T=0.00000
ExAC American Sub 11364 G=1.00000 T=0.00000
ExAC African Sub 9426 G=1.0000 T=0.0000
ExAC Other Sub 864 G=1.000 T=0.000
The PAGE Study Global Study-wide 78698 G=1.00000 T=0.00000
The PAGE Study AfricanAmerican Sub 32514 G=1.00000 T=0.00000
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 3828 G=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 T=0.0000
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 854 G=1.000 T=0.000
Allele Frequency Aggregator Total Global 14710 G=0.99986 T=0.00014
Allele Frequency Aggregator European Sub 9768 G=0.9998 T=0.0002
Allele Frequency Aggregator African Sub 3332 G=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 T=0.000
Allele Frequency Aggregator Other Sub 604 G=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 146 G=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 104 G=1.000 T=0.000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.999 T=0.001
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 20 NC_000020.11:g.46726312G>A
GRCh38.p14 chr 20 NC_000020.11:g.46726312G>T
GRCh37.p13 chr 20 NC_000020.10:g.45354951G>A
GRCh37.p13 chr 20 NC_000020.10:g.45354951G>T
SLC2A10 RefSeqGene NG_016284.1:g.21673G>A
SLC2A10 RefSeqGene NG_016284.1:g.21673G>T
Gene: SLC2A10, solute carrier family 2 member 10 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC2A10 transcript NM_030777.4:c.1276G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 NP_110404.1:p.Gly426Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript NM_030777.4:c.1276G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 NP_110404.1:p.Gly426Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X1 XM_011529060.3:c.1339G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X1 XP_011527362.1:p.Gly447Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X1 XM_011529060.3:c.1339G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X1 XP_011527362.1:p.Gly447Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X2 XM_011529061.3:c.1285G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X2 XP_011527363.1:p.Gly429Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X2 XM_011529061.3:c.1285G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X2 XP_011527363.1:p.Gly429Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X3 XM_047440528.1:c.1339G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X3 XP_047296484.1:p.Gly447Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X3 XM_047440528.1:c.1339G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X3 XP_047296484.1:p.Gly447Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X4 XM_011529062.3:c.1339G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X4 XP_011527364.1:p.Gly447Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X4 XM_011529062.3:c.1339G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X4 XP_011527364.1:p.Gly447Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X5 XM_011529063.3:c.1339G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X5 XP_011527365.1:p.Gly447Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X5 XM_011529063.3:c.1339G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X5 XP_011527365.1:p.Gly447Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X6 XM_047440529.1:c.1276G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X6 XP_047296485.1:p.Gly426Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X6 XM_047440529.1:c.1276G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X6 XP_047296485.1:p.Gly426Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X7 XM_011529064.3:c.1339G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X7 XP_011527366.1:p.Gly447Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X7 XM_011529064.3:c.1339G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X7 XP_011527366.1:p.Gly447Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X8 XM_011529065.3:c.1339G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X8 XP_011527367.1:p.Gly447Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X8 XM_011529065.3:c.1339G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X8 XP_011527367.1:p.Gly447Trp G (Gly) > W (Trp) Missense Variant
SLC2A10 transcript variant X9 XM_017028087.3:c.1276G>A G [GGG] > R [AGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X9 XP_016883576.1:p.Gly426Arg G (Gly) > R (Arg) Missense Variant
SLC2A10 transcript variant X9 XM_017028087.3:c.1276G>T G [GGG] > W [TGG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X9 XP_016883576.1:p.Gly426Trp G (Gly) > W (Trp) 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.

Allele: T (allele ID: 19628 )
ClinVar Accession Disease Names Clinical Significance
RCV000004851.9 Arterial tortuosity syndrome Pathogenic-Likely-Pathogenic
RCV000199687.11 not provided Likely-Pathogenic
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= A T
GRCh38.p14 chr 20 NC_000020.11:g.46726312= NC_000020.11:g.46726312G>A NC_000020.11:g.46726312G>T
GRCh37.p13 chr 20 NC_000020.10:g.45354951= NC_000020.10:g.45354951G>A NC_000020.10:g.45354951G>T
SLC2A10 RefSeqGene NG_016284.1:g.21673= NG_016284.1:g.21673G>A NG_016284.1:g.21673G>T
SLC2A10 transcript NM_030777.4:c.1276= NM_030777.4:c.1276G>A NM_030777.4:c.1276G>T
SLC2A10 transcript NM_030777.3:c.1276= NM_030777.3:c.1276G>A NM_030777.3:c.1276G>T
SLC2A10 transcript variant X2 XM_011529061.3:c.1285= XM_011529061.3:c.1285G>A XM_011529061.3:c.1285G>T
SLC2A10 transcript variant X2 XM_011529061.2:c.1285= XM_011529061.2:c.1285G>A XM_011529061.2:c.1285G>T
SLC2A10 transcript variant X2 XM_011529061.1:c.1285= XM_011529061.1:c.1285G>A XM_011529061.1:c.1285G>T
SLC2A10 transcript variant X1 XM_011529060.3:c.1339= XM_011529060.3:c.1339G>A XM_011529060.3:c.1339G>T
SLC2A10 transcript variant X1 XM_011529060.2:c.1339= XM_011529060.2:c.1339G>A XM_011529060.2:c.1339G>T
SLC2A10 transcript variant X1 XM_011529060.1:c.1339= XM_011529060.1:c.1339G>A XM_011529060.1:c.1339G>T
SLC2A10 transcript variant X4 XM_011529062.3:c.1339= XM_011529062.3:c.1339G>A XM_011529062.3:c.1339G>T
SLC2A10 transcript variant X4 XM_011529062.2:c.1339= XM_011529062.2:c.1339G>A XM_011529062.2:c.1339G>T
SLC2A10 transcript variant X4 XM_011529062.1:c.1339= XM_011529062.1:c.1339G>A XM_011529062.1:c.1339G>T
SLC2A10 transcript variant X8 XM_011529065.3:c.1339= XM_011529065.3:c.1339G>A XM_011529065.3:c.1339G>T
SLC2A10 transcript variant X7 XM_011529065.2:c.1339= XM_011529065.2:c.1339G>A XM_011529065.2:c.1339G>T
SLC2A10 transcript variant X7 XM_011529065.1:c.1339= XM_011529065.1:c.1339G>A XM_011529065.1:c.1339G>T
SLC2A10 transcript variant X9 XM_017028087.3:c.1276= XM_017028087.3:c.1276G>A XM_017028087.3:c.1276G>T
SLC2A10 transcript variant X8 XM_017028087.2:c.1276= XM_017028087.2:c.1276G>A XM_017028087.2:c.1276G>T
SLC2A10 transcript variant X8 XM_017028087.1:c.1276= XM_017028087.1:c.1276G>A XM_017028087.1:c.1276G>T
SLC2A10 transcript variant X5 XM_011529063.3:c.1339= XM_011529063.3:c.1339G>A XM_011529063.3:c.1339G>T
SLC2A10 transcript variant X5 XM_011529063.2:c.1339= XM_011529063.2:c.1339G>A XM_011529063.2:c.1339G>T
SLC2A10 transcript variant X5 XM_011529063.1:c.1339= XM_011529063.1:c.1339G>A XM_011529063.1:c.1339G>T
SLC2A10 transcript variant X7 XM_011529064.3:c.1339= XM_011529064.3:c.1339G>A XM_011529064.3:c.1339G>T
SLC2A10 transcript variant X6 XM_011529064.2:c.1339= XM_011529064.2:c.1339G>A XM_011529064.2:c.1339G>T
SLC2A10 transcript variant X6 XM_011529064.1:c.1339= XM_011529064.1:c.1339G>A XM_011529064.1:c.1339G>T
SLC2A10 transcript variant X6 XM_047440529.1:c.1276= XM_047440529.1:c.1276G>A XM_047440529.1:c.1276G>T
SLC2A10 transcript variant X3 XM_047440528.1:c.1339= XM_047440528.1:c.1339G>A XM_047440528.1:c.1339G>T
solute carrier family 2, facilitated glucose transporter member 10 NP_110404.1:p.Gly426= NP_110404.1:p.Gly426Arg NP_110404.1:p.Gly426Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X2 XP_011527363.1:p.Gly429= XP_011527363.1:p.Gly429Arg XP_011527363.1:p.Gly429Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X1 XP_011527362.1:p.Gly447= XP_011527362.1:p.Gly447Arg XP_011527362.1:p.Gly447Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X4 XP_011527364.1:p.Gly447= XP_011527364.1:p.Gly447Arg XP_011527364.1:p.Gly447Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X8 XP_011527367.1:p.Gly447= XP_011527367.1:p.Gly447Arg XP_011527367.1:p.Gly447Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X9 XP_016883576.1:p.Gly426= XP_016883576.1:p.Gly426Arg XP_016883576.1:p.Gly426Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X5 XP_011527365.1:p.Gly447= XP_011527365.1:p.Gly447Arg XP_011527365.1:p.Gly447Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X7 XP_011527366.1:p.Gly447= XP_011527366.1:p.Gly447Arg XP_011527366.1:p.Gly447Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X6 XP_047296485.1:p.Gly426= XP_047296485.1:p.Gly426Arg XP_047296485.1:p.Gly426Trp
solute carrier family 2, facilitated glucose transporter member 10 isoform X3 XP_047296484.1:p.Gly447= XP_047296484.1:p.Gly447Arg XP_047296484.1:p.Gly447Trp
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#.

14 SubSNP, 7 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss262857642 Sep 17, 2010 (132)
2 EVA-GONL ss994770258 Aug 21, 2014 (142)
3 EVA_EXAC ss1694026014 Apr 01, 2015 (144)
4 ILLUMINA ss1959919995 Feb 12, 2016 (147)
5 GNOMAD ss2744652961 Nov 08, 2017 (151)
6 GNOMAD ss2750396159 Nov 08, 2017 (151)
7 GNOMAD ss2967984131 Nov 08, 2017 (151)
8 ILLUMINA ss3022124404 Nov 08, 2017 (151)
9 ILLUMINA ss3652580850 Oct 12, 2018 (152)
10 ILLUMINA ss3725920077 Jul 13, 2019 (153)
11 PAGE_CC ss3772051725 Jul 13, 2019 (153)
12 TOPMED ss5090358506 Apr 26, 2021 (155)
13 EVA ss5847922813 Oct 13, 2022 (156)
14 EVA ss5979617836 Oct 13, 2022 (156)
15 ExAC NC_000020.10 - 45354951 Oct 12, 2018 (152)
16 gnomAD - Genomes NC_000020.11 - 46726312 Apr 26, 2021 (155)
17 gnomAD - Exomes NC_000020.10 - 45354951 Jul 13, 2019 (153)
18 Genome of the Netherlands Release 5 NC_000020.10 - 45354951 Apr 27, 2020 (154)
19 The PAGE Study NC_000020.11 - 46726312 Jul 13, 2019 (153)
20 TopMed NC_000020.11 - 46726312 Apr 26, 2021 (155)
21 ALFA NC_000020.11 - 46726312 Apr 26, 2021 (155)
22 ClinVar RCV000004851.9 Oct 13, 2022 (156)
23 ClinVar RCV000199687.11 Oct 13, 2022 (156)
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
ss2744652961 NC_000020.10:45354950:G:A NC_000020.11:46726311:G:A (self)
5582843, 13975433, 19341809, ss994770258, ss1694026014, ss1959919995, ss2744652961, ss2750396159, ss2967984131, ss3022124404, ss3652580850, ss5847922813, ss5979617836 NC_000020.10:45354950:G:T NC_000020.11:46726311:G:T (self)
RCV000004851.9, RCV000199687.11, 553295158, 1273194, 365467451, 1443107719, ss262857642, ss3725920077, ss3772051725, ss5090358506 NC_000020.11:46726311:G:T NC_000020.11:46726311: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.

1 citation for rs121908172
PMID Title Author Year Journal
17935213 Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Callewaert BL et al. 2008 Human mutation
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