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rs80357382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Normal
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357382(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106457
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357382
ebirs80357382
HLIrs80357382
Exacrs80357382
Varsomers80357382
Maprs80357382
PheGenIrs80357382
hapmaprs80357382
1000 genomesrs80357382
hgdprs80357382
ensemblrs80357382
gopubmedrs80357382
geneviewrs80357382
scholarrs80357382
googlers80357382
pharmgkbrs80357382
gwascentralrs80357382
openSNPrs80357382
23andMers80357382
23andMe allrs80357382
SNP Nexus

SNPshotrs80357382
SNPdbers80357382
MSV3drs80357382
GWAS Ctlgrs80357382
Max Magnitude6

c.211A>G (p.Arg71Gly)

ClinVar designates this variant as pathogenic for breast cancer

OMIM113705
Desc
Variant0034
Relatedalso
ClinVar
Risk rs80357382(G;G)
Alt rs80357382(G;G)
Reference rs80357382(A;A)
Significance Other
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41258474T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019263.9, RCV000047713.5, RCV000131899.2, RCV000195359.2,