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rs80356913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80356913(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106456
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356913
dbSNP (classic)rs80356913
ClinGenrs80356913
ebirs80356913
HLIrs80356913
Exacrs80356913
Gnomadrs80356913
Varsomers80356913
LitVarrs80356913
Maprs80356913
PheGenIrs80356913
Biobankrs80356913
1000 genomesrs80356913
hgdprs80356913
ensemblrs80356913
geneviewrs80356913
scholarrs80356913
googlers80356913
pharmgkbrs80356913
gwascentralrs80356913
openSNPrs80356913
23andMers80356913
SNPshotrs80356913
SNPdbers80356913
MSV3drs80356913
GWAS Ctlgrs80356913
Max Magnitude6
ClinVar
Risk rs80356913(A;A) rs80356913(C;C) rs80356913(T;T)
Alt rs80356913(A;A) rs80356913(C;C) rs80356913(T;T)
Reference Rs80356913(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41258473C>A; NC_000017.10:g.41258473C>G; NC_000017.10:g.41258473C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000165177.1, RCV000258240.1, RCV000258471.1, RCV000047724.2, RCV000112023.1,