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rs80357207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357207(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104172
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357207
ebirs80357207
HLIrs80357207
Exacrs80357207
Varsomers80357207
Maprs80357207
PheGenIrs80357207
hapmaprs80357207
1000 genomesrs80357207
hgdprs80357207
ensemblrs80357207
gopubmedrs80357207
geneviewrs80357207
scholarrs80357207
googlers80357207
pharmgkbrs80357207
gwascentralrs80357207
openSNPrs80357207
23andMers80357207
23andMe allrs80357207
SNP Nexus

SNPshotrs80357207
SNPdbers80357207
MSV3drs80357207
GWAS Ctlgrs80357207
Max Magnitude6
rs80357207, also known as R131X, c.391A>T and p.Arg131Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357207(T;T)
Alt rs80357207(T;T)
Reference rs80357207(A;A)
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.41256189T>A
CLNSRC ClinVar
CLNACC RCV000048380.2, RCV000112458.4,