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rs80357151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357151(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074350
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357151
ebirs80357151
HLIrs80357151
Exacrs80357151
Varsomers80357151
Maprs80357151
PheGenIrs80357151
hapmaprs80357151
1000 genomesrs80357151
hgdprs80357151
ensemblrs80357151
gopubmedrs80357151
geneviewrs80357151
scholarrs80357151
googlers80357151
pharmgkbrs80357151
gwascentralrs80357151
openSNPrs80357151
23andMers80357151
23andMe allrs80357151
SNP Nexus

SNPshotrs80357151
SNPdbers80357151
MSV3drs80357151
GWAS Ctlgrs80357151
Max Magnitude6
rs80357151, also known as Y1552X, c.4656C>G and p.Tyr1552Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357151(G;G)
Alt rs80357151(G;G)
Reference rs80357151(C;C)
Significance Untested
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.41226367G>C
CLNSRC ClinVar
CLNACC RCV000048620.2, RCV000112374.1,