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rs80357168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357168(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092511
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357168
ebirs80357168
HLIrs80357168
Exacrs80357168
Varsomers80357168
Maprs80357168
PheGenIrs80357168
hapmaprs80357168
1000 genomesrs80357168
hgdprs80357168
ensemblrs80357168
gopubmedrs80357168
geneviewrs80357168
scholarrs80357168
googlers80357168
pharmgkbrs80357168
gwascentralrs80357168
openSNPrs80357168
23andMers80357168
23andMe allrs80357168
SNP Nexus

SNPshotrs80357168
SNPdbers80357168
MSV3drs80357168
GWAS Ctlgrs80357168
Max Magnitude6
rs80357168, also known as S1007X, c.3020C>G and p.Ser1007Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357168(G;G)
Alt rs80357168(G;G)
Reference rs80357168(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.41244528G>C
CLNSRC ClinVar
CLNACC RCV000048049.2, RCV000111983.1,