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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.

rs771958941

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:14843925 (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
T>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000017 (3/179374, GnomAD_exome)
A=0.000000 (0/103863, GnomAD)
A=0.00001 (1/86376, ExAC) (+ 3 more)
A=0.00000 (0/10680, ALFA)
A=0.0002 (1/4805, 1000G_30x)
A=0.0003 (1/3775, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FANCB : 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 10680 T=1.00000 A=0.00000
European Sub 6962 T=1.0000 A=0.0000
African Sub 2294 T=1.0000 A=0.0000
African Others Sub 84 T=1.00 A=0.00
African American Sub 2210 T=1.0000 A=0.0000
Asian Sub 108 T=1.000 A=0.000
East Asian Sub 84 T=1.00 A=0.00
Other Asian Sub 24 T=1.00 A=0.00
Latin American 1 Sub 146 T=1.000 A=0.000
Latin American 2 Sub 610 T=1.000 A=0.000
South Asian Sub 94 T=1.00 A=0.00
Other Sub 466 T=1.000 A=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
gnomAD - Exomes Global Study-wide 179374 T=0.999983 A=0.000017
gnomAD - Exomes European Sub 96199 T=1.00000 A=0.00000
gnomAD - Exomes Asian Sub 31844 T=0.99991 A=0.00009
gnomAD - Exomes American Sub 26864 T=1.00000 A=0.00000
gnomAD - Exomes African Sub 12812 T=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 7254 T=1.0000 A=0.0000
gnomAD - Exomes Other Sub 4401 T=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 103863 T=1.000000 A=0.000000
gnomAD - Genomes European Sub 57010 T=1.00000 A=0.00000
gnomAD - Genomes African Sub 31251 T=1.00000 A=0.00000
gnomAD - Genomes American Sub 9284 T=1.0000 A=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 2509 T=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 2242 T=1.0000 A=0.0000
gnomAD - Genomes Other Sub 1567 T=1.0000 A=0.0000
ExAC Global Study-wide 86376 T=0.99999 A=0.00001
ExAC Europe Sub 52018 T=1.00000 A=0.00000
ExAC Asian Sub 16372 T=0.99994 A=0.00006
ExAC American Sub 9292 T=1.0000 A=0.0000
ExAC African Sub 8072 T=1.0000 A=0.0000
ExAC Other Sub 622 T=1.000 A=0.000
Allele Frequency Aggregator Total Global 10680 T=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 6962 T=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2294 T=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 A=0.000
Allele Frequency Aggregator Other Sub 466 T=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 T=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 A=0.00
1000Genomes_30x Global Study-wide 4805 T=0.9998 A=0.0002
1000Genomes_30x African Sub 1328 T=1.0000 A=0.0000
1000Genomes_30x Europe Sub 961 T=1.000 A=0.000
1000Genomes_30x South Asian Sub 883 T=0.999 A=0.001
1000Genomes_30x East Asian Sub 878 T=1.000 A=0.000
1000Genomes_30x American Sub 755 T=1.000 A=0.000
1000Genomes Global Study-wide 3775 T=0.9997 A=0.0003
1000Genomes African Sub 1003 T=1.0000 A=0.0000
1000Genomes Europe Sub 766 T=1.000 A=0.000
1000Genomes East Asian Sub 764 T=1.000 A=0.000
1000Genomes South Asian Sub 718 T=0.999 A=0.001
1000Genomes American Sub 524 T=1.000 A=0.000
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 X NC_000023.11:g.14843925T>A
GRCh37.p13 chr X NC_000023.10:g.14862047T>A
FANCB RefSeqGene (LRG_496) NG_007310.1:g.34138A>T
Gene: FANCB, FA complementation group B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FANCB transcript variant 1 NM_001018113.3:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform 1 NP_001018123.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant 2 NM_152633.4:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform 1 NP_689846.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant 3 NM_001324162.2:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform 1 NP_001311091.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant 4 NR_136707.2:n. N/A Genic Downstream Transcript Variant
FANCB transcript variant X2 XM_011545470.3:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform X1 XP_011543772.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant X5 XM_047441920.1:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform X1 XP_047297876.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant X6 XM_047441921.1:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform X1 XP_047297877.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant X7 XM_017029356.2:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform X2 XP_016884845.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant X8 XM_047441922.1:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform X2 XP_047297878.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant X9 XM_047441923.1:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform X2 XP_047297879.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant X10 XM_047441924.1:c.2222A>T N [AAC] > I [ATC] Coding Sequence Variant
Fanconi anemia group B protein isoform X2 XP_047297880.1:p.Asn741Ile N (Asn) > I (Ile) Missense Variant
FANCB transcript variant X4 XR_001755672.2:n.2497A>T N/A Non Coding Transcript Variant
FANCB transcript variant X1 XR_007068184.1:n.2476A>T N/A Non Coding Transcript Variant
FANCB transcript variant X2 XR_001755673.2:n.6439A>T N/A Non Coding Transcript Variant
FANCB transcript variant X3 XR_001755674.2:n.2376A>T N/A Non Coding Transcript 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 T= A
GRCh38.p14 chr X NC_000023.11:g.14843925= NC_000023.11:g.14843925T>A
GRCh37.p13 chr X NC_000023.10:g.14862047= NC_000023.10:g.14862047T>A
FANCB RefSeqGene (LRG_496) NG_007310.1:g.34138= NG_007310.1:g.34138A>T
FANCB transcript variant 2 NM_152633.4:c.2222= NM_152633.4:c.2222A>T
FANCB transcript variant 2 NM_152633.3:c.2222= NM_152633.3:c.2222A>T
FANCB transcript variant 2 NM_152633.2:c.2222= NM_152633.2:c.2222A>T
FANCB transcript variant 1 NM_001018113.3:c.2222= NM_001018113.3:c.2222A>T
FANCB transcript variant 1 NM_001018113.2:c.2222= NM_001018113.2:c.2222A>T
FANCB transcript variant 1 NM_001018113.1:c.2222= NM_001018113.1:c.2222A>T
FANCB transcript variant 3 NM_001324162.2:c.2222= NM_001324162.2:c.2222A>T
FANCB transcript variant 3 NM_001324162.1:c.2222= NM_001324162.1:c.2222A>T
FANCB transcript variant 5 NM_001410764.1:c.2222= NM_001410764.1:c.2222A>T
FANCB transcript variant X2 XM_011545470.3:c.2222= XM_011545470.3:c.2222A>T
FANCB transcript variant X2 XR_001755673.2:n.6439= XR_001755673.2:n.6439A>T
FANCB transcript variant X3 XR_001755673.1:n.2475= XR_001755673.1:n.2475A>T
FANCB transcript variant X4 XR_001755672.2:n.2497= XR_001755672.2:n.2497A>T
FANCB transcript variant X1 XR_001755672.1:n.2683= XR_001755672.1:n.2683A>T
FANCB transcript variant X3 XR_001755674.2:n.2376= XR_001755674.2:n.2376A>T
FANCB transcript variant X4 XR_001755674.1:n.2376= XR_001755674.1:n.2376A>T
FANCB transcript variant X7 XM_017029356.2:c.2222= XM_017029356.2:c.2222A>T
FANCB transcript variant X6 XM_017029356.1:c.2222= XM_017029356.1:c.2222A>T
FANCB transcript variant X10 XM_047441924.1:c.2222= XM_047441924.1:c.2222A>T
FANCB transcript variant X5 XM_047441920.1:c.2222= XM_047441920.1:c.2222A>T
FANCB transcript variant X6 XM_047441921.1:c.2222= XM_047441921.1:c.2222A>T
FANCB transcript variant X1 XR_007068184.1:n.2476= XR_007068184.1:n.2476A>T
FANCB transcript variant X8 XM_047441922.1:c.2222= XM_047441922.1:c.2222A>T
FANCB transcript variant X9 XM_047441923.1:c.2222= XM_047441923.1:c.2222A>T
Fanconi anemia group B protein isoform 1 NP_689846.1:p.Asn741= NP_689846.1:p.Asn741Ile
Fanconi anemia group B protein isoform 1 NP_001018123.1:p.Asn741= NP_001018123.1:p.Asn741Ile
Fanconi anemia group B protein isoform 1 NP_001311091.1:p.Asn741= NP_001311091.1:p.Asn741Ile
Fanconi anemia group B protein isoform X1 XP_011543772.1:p.Asn741= XP_011543772.1:p.Asn741Ile
Fanconi anemia group B protein isoform X2 XP_016884845.1:p.Asn741= XP_016884845.1:p.Asn741Ile
Fanconi anemia group B protein isoform X2 XP_047297880.1:p.Asn741= XP_047297880.1:p.Asn741Ile
Fanconi anemia group B protein isoform X1 XP_047297876.1:p.Asn741= XP_047297876.1:p.Asn741Ile
Fanconi anemia group B protein isoform X1 XP_047297877.1:p.Asn741= XP_047297877.1:p.Asn741Ile
Fanconi anemia group B protein isoform X2 XP_047297878.1:p.Asn741= XP_047297878.1:p.Asn741Ile
Fanconi anemia group B protein isoform X2 XP_047297879.1:p.Asn741= XP_047297879.1:p.Asn741Ile
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#.

5 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1553609217 Apr 01, 2015 (144)
2 EVA_EXAC ss1694461601 Apr 01, 2015 (144)
3 GNOMAD ss2745312604 Nov 08, 2017 (151)
4 GNOMAD ss4368315969 Apr 27, 2021 (155)
5 1000G_HIGH_COVERAGE ss5619750073 Oct 16, 2022 (156)
6 1000Genomes NC_000023.10 - 14862047 Oct 12, 2018 (152)
7 1000Genomes_30x NC_000023.11 - 14843925 Oct 16, 2022 (156)
8 ExAC NC_000023.10 - 14862047 Oct 12, 2018 (152)
9 gnomAD - Genomes NC_000023.11 - 14843925 Apr 27, 2021 (155)
10 gnomAD - Exomes NC_000023.10 - 14862047 Jul 13, 2019 (153)
11 ALFA NC_000023.11 - 14843925 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
81592365, 9959003, 14649116, ss1553609217, ss1694461601, ss2745312604 NC_000023.10:14862046:T:A NC_000023.11:14843924:T:A (self)
107276008, 575771111, 14645603852, ss4368315969, ss5619750073 NC_000023.11:14843924:T:A NC_000023.11:14843924:T: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 rs771958941

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