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rs80356962

From SNPedia

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


Make rs80356962(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047666
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356962
ebirs80356962
HLIrs80356962
Exacrs80356962
Varsomers80356962
Maprs80356962
PheGenIrs80356962
hapmaprs80356962
1000 genomesrs80356962
hgdprs80356962
ensemblrs80356962
gopubmedrs80356962
geneviewrs80356962
scholarrs80356962
googlers80356962
pharmgkbrs80356962
gwascentralrs80356962
openSNPrs80356962
23andMers80356962
23andMe allrs80356962
SNP Nexus

SNPshotrs80356962
SNPdbers80356962
MSV3drs80356962
GWAS Ctlgrs80356962
Max Magnitude6
rs80356962, also known as W1815X, c.5444G>A and p.Trp1815Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356962(A;A)
Alt rs80356962(A;A)
Reference rs80356962(G;G)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41199683C>T
CLNSRC ClinVar
CLNACC RCV000048996.5, RCV000112656.2, RCV000162887.1, RCV000167788.2,