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rs80356953

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 rs80356953(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074519
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356953
ebirs80356953
HLIrs80356953
Exacrs80356953
Varsomers80356953
Maprs80356953
PheGenIrs80356953
hapmaprs80356953
1000 genomesrs80356953
hgdprs80356953
ensemblrs80356953
gopubmedrs80356953
geneviewrs80356953
scholarrs80356953
googlers80356953
pharmgkbrs80356953
gwascentralrs80356953
openSNPrs80356953
23andMers80356953
23andMe allrs80356953
SNP Nexus

SNPshotrs80356953
SNPdbers80356953
MSV3drs80356953
GWAS Ctlgrs80356953
Max Magnitude6
rs80356953, also known as S1496X, c.4487C>G and p.Ser1496Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356953(A,G;A,G)
Alt rs80356953(A,G;A,G)
Reference rs80356953(C;C)
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.41226536G>C; NC_000017.10:g.41226536G>T
CLNSRC ClinVar
CLNACC RCV000048580.2, RCV000112348.1, RCV000048579.2, RCV000112347.1,