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rs80357405

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357405(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092142
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357405
ebirs80357405
HLIrs80357405
Exacrs80357405
Varsomers80357405
Maprs80357405
PheGenIrs80357405
hapmaprs80357405
1000 genomesrs80357405
hgdprs80357405
ensemblrs80357405
gopubmedrs80357405
geneviewrs80357405
scholarrs80357405
googlers80357405
pharmgkbrs80357405
gwascentralrs80357405
openSNPrs80357405
23andMers80357405
23andMe allrs80357405
SNP Nexus

SNPshotrs80357405
SNPdbers80357405
MSV3drs80357405
GWAS Ctlgrs80357405
Max Magnitude6
rs80357405, also known as S1130X, c.3389C>G and p.Ser1130Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357405(G;G)
Alt rs80357405(G;G)
Reference rs80357405(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast not provided
Reversed 1
HGVS NC_000017.10:g.41244159G>C
CLNSRC ClinVar
CLNACC RCV000031109.4, RCV000048173.2, RCV000236909.1,