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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.

rs77805226

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr9:133257461 (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.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000011 (3/264690, TOPMED)
A=0.000012 (3/249304, GnomAD_exome)
A=0.000014 (2/140074, GnomAD) (+ 1 more)
A=0.00004 (2/44878, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABO : Stop Gained
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 9 NC_000009.12:g.133257461G>A
GRCh37.p13 chr 9 NC_000009.11:g.136132848G>A
ABO RefSeqGene (LRG_792) NG_006669.2:g.22755C>T
chr 9 fix patch HG2030_PATCH NW_009646201.1:g.83554G>A
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.83554G>A
Gene: ABO, ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABO transcript NM_020469.3:c.322C>T Q [CAG] > * [TAG] Coding Sequence Variant
histo-blood group ABO system transferase NP_065202.2:p.Gln108Ter Q (Gln) > * (Ter) Stop Gained
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

ALFA Allele Frequency (New)
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 44878 G=0.99996 A=0.00004
European Sub 35160 G=0.99994 A=0.00006
African Sub 3264 G=1.0000 A=0.0000
African Others Sub 122 G=1.000 A=0.000
African American Sub 3142 G=1.0000 A=0.0000
Asian Sub 400 G=1.000 A=0.000
East Asian Sub 342 G=1.000 A=0.000
Other Asian Sub 58 G=1.00 A=0.00
Latin American 1 Sub 532 G=1.000 A=0.000
Latin American 2 Sub 798 G=1.000 A=0.000
South Asian Sub 116 G=1.000 A=0.000
Other Sub 4608 G=1.0000 A=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=0.999989 A=0.000011
gnomAD - Exomes Global Study-wide 249304 G=0.999988 A=0.000012
gnomAD - Exomes European Sub 134596 G=0.999978 A=0.000022
gnomAD - Exomes Asian Sub 48578 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34520 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 15490 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10066 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6054 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140074 G=0.999986 A=0.000014
gnomAD - Genomes European Sub 75934 G=0.99999 A=0.00001
gnomAD - Genomes African Sub 41892 G=0.99998 A=0.00002
gnomAD - Genomes American Sub 13642 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 A=0.0000
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
GRCh38.p13 chr 9 NC_000009.12:g.133257461= NC_000009.12:g.133257461G>A
GRCh37.p13 chr 9 NC_000009.11:g.136132848= NC_000009.11:g.136132848G>A
ABO RefSeqGene (LRG_792) NG_006669.2:g.22755= NG_006669.2:g.22755C>T
ABO transcript NM_020469.3:c.322= NM_020469.3:c.322C>T
ABO transcript NM_020469.2:c.322= NM_020469.2:c.322C>T
chr 9 fix patch HG2030_PATCH NW_009646201.1:g.83554= NW_009646201.1:g.83554G>A
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.83554= NW_003315925.1:g.83554G>A
histo-blood group ABO system transferase NP_065202.2:p.Gln108= NP_065202.2:p.Gln108Ter
ABO transcript variant X3 XM_005276850.1:c.-50+582= XM_005276850.1:c.-50+582C>T
ABO transcript variant X4 XM_005276851.1:c.-50+637= XM_005276851.1:c.-50+637C>T
ABO transcript variant X5 XM_005276852.1:c.-50+637= XM_005276852.1:c.-50+637C>T
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#.

7 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss159846011 Dec 01, 2009 (131)
2 ILLUMINA ss479154477 Sep 08, 2015 (146)
3 GNOMAD ss2737968131 Nov 08, 2017 (151)
4 TOPMED ss3602426341 Nov 08, 2017 (151)
5 ILLUMINA ss3636985763 Oct 12, 2018 (152)
6 GNOMAD ss4210660555 Apr 26, 2021 (155)
7 TOPMED ss4838097928 Apr 26, 2021 (155)
8 gnomAD - Genomes NC_000009.12 - 133257461 Apr 26, 2021 (155)
9 gnomAD - Exomes NC_000009.11 - 136132848 Jul 13, 2019 (153)
10 TopMed NC_000009.12 - 133257461 Apr 26, 2021 (155)
11 ALFA NC_000009.12 - 133257461 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
7158069, ss479154477, ss2737968131, ss3636985763 NC_000009.11:136132847:G:A NC_000009.12:133257460:G:A (self)
339698833, 421728633, 675475489, 10241747606, ss3602426341, ss4210660555, ss4838097928 NC_000009.12:133257460:G:A NC_000009.12:133257460:G:A (self)
ss159846011 NT_035014.4:2909787:G:A NC_000009.12:133257460:G:A (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 rs77805226

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.post596+ae089ad