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rs80356891

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 rs80356891(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094179
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356891
ebirs80356891
HLIrs80356891
Exacrs80356891
Varsomers80356891
Maprs80356891
PheGenIrs80356891
hapmaprs80356891
1000 genomesrs80356891
hgdprs80356891
ensemblrs80356891
gopubmedrs80356891
geneviewrs80356891
scholarrs80356891
googlers80356891
pharmgkbrs80356891
gwascentralrs80356891
openSNPrs80356891
23andMers80356891
23andMe allrs80356891
SNP Nexus

SNPshotrs80356891
SNPdbers80356891
MSV3drs80356891
GWAS Ctlgrs80356891
Max Magnitude6
rs80356891, also known as S451X, c.1352C>A and p.Ser451Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356891(A,G;A,G)
Alt rs80356891(A,G;A,G)
Reference rs80356891(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.41246196G>C; NC_000017.10:g.41246196G>T
CLNSRC ClinVar
CLNACC RCV000047438.2, RCV000111594.1, RCV000047437.2, RCV000111593.2,