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rs80357331

From SNPedia

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


Make rs80357331(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094709
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357331
ebirs80357331
HLIrs80357331
Exacrs80357331
Varsomers80357331
Maprs80357331
PheGenIrs80357331
hapmaprs80357331
1000 genomesrs80357331
hgdprs80357331
ensemblrs80357331
gopubmedrs80357331
geneviewrs80357331
scholarrs80357331
googlers80357331
pharmgkbrs80357331
gwascentralrs80357331
openSNPrs80357331
23andMers80357331
23andMe allrs80357331
SNP Nexus

SNPshotrs80357331
SNPdbers80357331
MSV3drs80357331
GWAS Ctlgrs80357331
Max Magnitude6
rs80357331, also known as C274X, c.822T>A and p.Cys274Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357331(A;A)
Alt rs80357331(A;A)
Reference rs80357331(T;T)
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.41246726A>T
CLNSRC ClinVar
CLNACC RCV000049157.2, RCV000112796.1,