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rs80356908

From SNPedia

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


Make rs80356908(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094473
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356908
ebirs80356908
HLIrs80356908
Exacrs80356908
Varsomers80356908
Maprs80356908
PheGenIrs80356908
hapmaprs80356908
1000 genomesrs80356908
hgdprs80356908
ensemblrs80356908
gopubmedrs80356908
geneviewrs80356908
scholarrs80356908
googlers80356908
pharmgkbrs80356908
gwascentralrs80356908
openSNPrs80356908
23andMers80356908
23andMe allrs80356908
SNP Nexus

SNPshotrs80356908
SNPdbers80356908
MSV3drs80356908
GWAS Ctlgrs80356908
Max Magnitude6
rs80356908, also known as W353X, c.1058G>A and p.Trp353Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356908(A;A)
Alt rs80356908(A;A)
Reference rs80356908(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246490C>T
CLNSRC ClinVar
CLNACC RCV000047320.2, RCV000111533.1,