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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.

rs1468820226

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:35315168 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
A=0.000004 (1/251038, GnomAD_exome)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC1A2 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 10680 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 C=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 466 G=1.000 C=0.000 1.0 0.0 0.0 N/A


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=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 251038 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135134 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48936 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34532 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16254 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10066 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6116 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 C=0.00
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 11 NC_000011.10:g.35315168G>A
GRCh38.p14 chr 11 NC_000011.10:g.35315168G>C
GRCh37.p13 chr 11 NC_000011.9:g.35336715G>A
GRCh37.p13 chr 11 NC_000011.9:g.35336715G>C
SLC1A2 RefSeqGene NG_008727.2:g.109391C>T
SLC1A2 RefSeqGene NG_008727.2:g.109391C>G
Gene: SLC1A2, solute carrier family 1 member 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC1A2 transcript variant 1 NM_004171.4:c.165C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform 1 NP_004162.2:p.Ile55= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant 1 NM_004171.4:c.165C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform 1 NP_004162.2:p.Ile55Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant 2 NM_001195728.3:c.138C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform 2 NP_001182657.1:p.Ile46= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant 2 NM_001195728.3:c.138C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform 2 NP_001182657.1:p.Ile46Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant 3 NM_001252652.2:c.138C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform 2 NP_001239581.1:p.Ile46= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant 3 NM_001252652.2:c.138C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform 2 NP_001239581.1:p.Ile46Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X3 XM_017018136.1:c.180C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X3 XP_016873625.1:p.Ile60= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X3 XM_017018136.1:c.180C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X3 XP_016873625.1:p.Ile60Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X4 XM_011520285.2:c.153C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X4 XP_011518587.1:p.Ile51= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X4 XM_011520285.2:c.153C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X4 XP_011518587.1:p.Ile51Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X1 XM_047427436.1:c.249C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X1 XP_047283392.1:p.Ile83= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X1 XM_047427436.1:c.249C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X1 XP_047283392.1:p.Ile83Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X2 XM_047427437.1:c.159C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X2 XP_047283393.1:p.Ile53= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X2 XM_047427437.1:c.159C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X2 XP_047283393.1:p.Ile53Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X5 XM_047427438.1:c.138C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_047283394.1:p.Ile46= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X5 XM_047427438.1:c.138C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_047283394.1:p.Ile46Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X6 XM_017018137.2:c.138C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_016873626.1:p.Ile46= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X6 XM_017018137.2:c.138C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_016873626.1:p.Ile46Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X7 XM_017018138.2:c.138C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_016873627.1:p.Ile46= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X7 XM_017018138.2:c.138C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_016873627.1:p.Ile46Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X8 XM_047427440.1:c.138C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_047283396.1:p.Ile46= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X8 XM_047427440.1:c.138C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_047283396.1:p.Ile46Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X12 XM_047427441.1:c.249C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X7 XP_047283397.1:p.Ile83= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X12 XM_047427441.1:c.249C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X7 XP_047283397.1:p.Ile83Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X9 XM_017018139.2:c.165C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X6 XP_016873628.1:p.Ile55= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X9 XM_017018139.2:c.165C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X6 XP_016873628.1:p.Ile55Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X10 XM_047427442.1:c.138C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_047283398.1:p.Ile46= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X10 XM_047427442.1:c.138C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_047283398.1:p.Ile46Met I (Ile) > M (Met) Missense Variant
SLC1A2 transcript variant X11 XM_047427443.1:c.138C>T I [ATC] > I [ATT] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_047283399.1:p.Ile46= I (Ile) > I (Ile) Synonymous Variant
SLC1A2 transcript variant X11 XM_047427443.1:c.138C>G I [ATC] > M [ATG] Coding Sequence Variant
excitatory amino acid transporter 2 isoform X5 XP_047283399.1:p.Ile46Met I (Ile) > M (Met) 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= A C
GRCh38.p14 chr 11 NC_000011.10:g.35315168= NC_000011.10:g.35315168G>A NC_000011.10:g.35315168G>C
GRCh37.p13 chr 11 NC_000011.9:g.35336715= NC_000011.9:g.35336715G>A NC_000011.9:g.35336715G>C
SLC1A2 RefSeqGene NG_008727.2:g.109391= NG_008727.2:g.109391C>T NG_008727.2:g.109391C>G
SLC1A2 transcript variant 1 NM_004171.4:c.165= NM_004171.4:c.165C>T NM_004171.4:c.165C>G
SLC1A2 transcript variant 1 NM_004171.3:c.165= NM_004171.3:c.165C>T NM_004171.3:c.165C>G
SLC1A2 transcript variant 2 NM_001195728.3:c.138= NM_001195728.3:c.138C>T NM_001195728.3:c.138C>G
SLC1A2 transcript variant 2 NM_001195728.2:c.138= NM_001195728.2:c.138C>T NM_001195728.2:c.138C>G
SLC1A2 transcript variant 3 NM_001252652.2:c.138= NM_001252652.2:c.138C>T NM_001252652.2:c.138C>G
SLC1A2 transcript variant 3 NM_001252652.1:c.138= NM_001252652.1:c.138C>T NM_001252652.1:c.138C>G
SLC1A2 transcript variant X9 XM_017018139.2:c.165= XM_017018139.2:c.165C>T XM_017018139.2:c.165C>G
SLC1A2 transcript variant X6 XM_017018139.1:c.165= XM_017018139.1:c.165C>T XM_017018139.1:c.165C>G
SLC1A2 transcript variant X6 XM_017018137.2:c.138= XM_017018137.2:c.138C>T XM_017018137.2:c.138C>G
SLC1A2 transcript variant X4 XM_017018137.1:c.138= XM_017018137.1:c.138C>T XM_017018137.1:c.138C>G
SLC1A2 transcript variant X7 XM_017018138.2:c.138= XM_017018138.2:c.138C>T XM_017018138.2:c.138C>G
SLC1A2 transcript variant X5 XM_017018138.1:c.138= XM_017018138.1:c.138C>T XM_017018138.1:c.138C>G
SLC1A2 transcript variant X4 XM_011520285.2:c.153= XM_011520285.2:c.153C>T XM_011520285.2:c.153C>G
SLC1A2 transcript variant X3 XM_011520285.1:c.153= XM_011520285.1:c.153C>T XM_011520285.1:c.153C>G
SLC1A2 transcript variant X3 XM_017018136.1:c.180= XM_017018136.1:c.180C>T XM_017018136.1:c.180C>G
SLC1A2 transcript variant X1 XM_047427436.1:c.249= XM_047427436.1:c.249C>T XM_047427436.1:c.249C>G
SLC1A2 transcript variant X12 XM_047427441.1:c.249= XM_047427441.1:c.249C>T XM_047427441.1:c.249C>G
SLC1A2 transcript variant X10 XM_047427442.1:c.138= XM_047427442.1:c.138C>T XM_047427442.1:c.138C>G
SLC1A2 transcript variant X11 XM_047427443.1:c.138= XM_047427443.1:c.138C>T XM_047427443.1:c.138C>G
SLC1A2 transcript variant X5 XM_047427438.1:c.138= XM_047427438.1:c.138C>T XM_047427438.1:c.138C>G
SLC1A2 transcript variant X2 XM_047427437.1:c.159= XM_047427437.1:c.159C>T XM_047427437.1:c.159C>G
SLC1A2 transcript variant X8 XM_047427440.1:c.138= XM_047427440.1:c.138C>T XM_047427440.1:c.138C>G
excitatory amino acid transporter 2 isoform 1 NP_004162.2:p.Ile55= NP_004162.2:p.Ile55= NP_004162.2:p.Ile55Met
excitatory amino acid transporter 2 isoform 2 NP_001182657.1:p.Ile46= NP_001182657.1:p.Ile46= NP_001182657.1:p.Ile46Met
excitatory amino acid transporter 2 isoform 2 NP_001239581.1:p.Ile46= NP_001239581.1:p.Ile46= NP_001239581.1:p.Ile46Met
excitatory amino acid transporter 2 isoform X6 XP_016873628.1:p.Ile55= XP_016873628.1:p.Ile55= XP_016873628.1:p.Ile55Met
excitatory amino acid transporter 2 isoform X5 XP_016873626.1:p.Ile46= XP_016873626.1:p.Ile46= XP_016873626.1:p.Ile46Met
excitatory amino acid transporter 2 isoform X5 XP_016873627.1:p.Ile46= XP_016873627.1:p.Ile46= XP_016873627.1:p.Ile46Met
excitatory amino acid transporter 2 isoform X4 XP_011518587.1:p.Ile51= XP_011518587.1:p.Ile51= XP_011518587.1:p.Ile51Met
excitatory amino acid transporter 2 isoform X3 XP_016873625.1:p.Ile60= XP_016873625.1:p.Ile60= XP_016873625.1:p.Ile60Met
excitatory amino acid transporter 2 isoform X1 XP_047283392.1:p.Ile83= XP_047283392.1:p.Ile83= XP_047283392.1:p.Ile83Met
excitatory amino acid transporter 2 isoform X7 XP_047283397.1:p.Ile83= XP_047283397.1:p.Ile83= XP_047283397.1:p.Ile83Met
excitatory amino acid transporter 2 isoform X5 XP_047283398.1:p.Ile46= XP_047283398.1:p.Ile46= XP_047283398.1:p.Ile46Met
excitatory amino acid transporter 2 isoform X5 XP_047283399.1:p.Ile46= XP_047283399.1:p.Ile46= XP_047283399.1:p.Ile46Met
excitatory amino acid transporter 2 isoform X5 XP_047283394.1:p.Ile46= XP_047283394.1:p.Ile46= XP_047283394.1:p.Ile46Met
excitatory amino acid transporter 2 isoform X2 XP_047283393.1:p.Ile53= XP_047283393.1:p.Ile53= XP_047283393.1:p.Ile53Met
excitatory amino acid transporter 2 isoform X5 XP_047283396.1:p.Ile46= XP_047283396.1:p.Ile46= XP_047283396.1:p.Ile46Met
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738898269 Nov 08, 2017 (151)
2 TOPMED ss4881318920 Apr 26, 2021 (155)
3 gnomAD - Exomes NC_000011.9 - 35336715 Jul 13, 2019 (153)
4 TopMed NC_000011.10 - 35315168 Apr 26, 2021 (155)
5 ALFA NC_000011.10 - 35315168 Apr 26, 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
8110641, ss2738898269 NC_000011.9:35336714:G:A NC_000011.10:35315167:G:A (self)
96864576, 734871607, ss4881318920 NC_000011.10:35315167:G:C NC_000011.10:35315167:G:C (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 rs1468820226

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.post820+afb47a3d