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rs80357481

From SNPedia

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


Make rs80357481(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094317
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357481
dbSNP (old)rs80357481
ClinGenrs80357481
ebirs80357481
HLIrs80357481
Exacrs80357481
Varsomers80357481
Maprs80357481
PheGenIrs80357481
Biobankrs80357481
1000 genomesrs80357481
hgdprs80357481
ensemblrs80357481
gopubmedrs80357481
geneviewrs80357481
scholarrs80357481
googlers80357481
pharmgkbrs80357481
gwascentralrs80357481
openSNPrs80357481
23andMers80357481
23andMe allrs80357481
SNP Nexus

SNPshotrs80357481
SNPdbers80357481
MSV3drs80357481
GWAS Ctlgrs80357481
Max Magnitude6
rs80357481, also known as S405X, c.1214C>A and p.Ser405Ter, as well as c.1214C>G, represents two variants in the BRCA1 gene both considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs80357481(A;A) rs80357481(G;G)
Alt rs80357481(A;A) rs80357481(G;G)
Reference Rs80357481(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246334G>C; NC_000017.10:g.41246334G>T
CLNSRC ClinVar
CLNACC RCV000083017.3, RCV000047380.2, RCV000111568.2,