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rs80357496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357496(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057120
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357496
ebirs80357496
HLIrs80357496
Exacrs80357496
Varsomers80357496
Maprs80357496
PheGenIrs80357496
hapmaprs80357496
1000 genomesrs80357496
hgdprs80357496
ensemblrs80357496
gopubmedrs80357496
geneviewrs80357496
scholarrs80357496
googlers80357496
pharmgkbrs80357496
gwascentralrs80357496
openSNPrs80357496
23andMers80357496
23andMe allrs80357496
SNP Nexus

SNPshotrs80357496
SNPdbers80357496
MSV3drs80357496
GWAS Ctlgrs80357496
Max Magnitude6
rs80357496, also known as R1737X, c.5209A>T and p.Arg1737Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357496(T;T)
Alt rs80357496(T;T)
Reference rs80357496(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.41209137T>A
CLNSRC ClinVar
CLNACC RCV000048860.2, RCV000112564.1,