Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357295

From SNPedia

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


Make rs80357295(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092667
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357295
ebirs80357295
HLIrs80357295
Exacrs80357295
Varsomers80357295
Maprs80357295
PheGenIrs80357295
hapmaprs80357295
1000 genomesrs80357295
hgdprs80357295
ensemblrs80357295
gopubmedrs80357295
geneviewrs80357295
scholarrs80357295
googlers80357295
pharmgkbrs80357295
gwascentralrs80357295
openSNPrs80357295
23andMers80357295
23andMe allrs80357295
SNP Nexus

SNPshotrs80357295
SNPdbers80357295
MSV3drs80357295
GWAS Ctlgrs80357295
Max Magnitude6
rs80357295, also known as S955X, c.2864C>A and p.Ser955Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357295(A;A)
Alt rs80357295(A;A)
Reference rs80357295(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244684G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047992.2, RCV000077530.4, RCV000131912.2,