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rs80357477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Normal
Make rs80357477(A;G)
Make rs80357477(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047657
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357477
ebirs80357477
HLIrs80357477
Exacrs80357477
Varsomers80357477
Maprs80357477
PheGenIrs80357477
hapmaprs80357477
1000 genomesrs80357477
hgdprs80357477
ensemblrs80357477
gopubmedrs80357477
geneviewrs80357477
scholarrs80357477
googlers80357477
pharmgkbrs80357477
gwascentralrs80357477
openSNPrs80357477
23andMers80357477
23andMe allrs80357477
SNP Nexus

SNPshotrs80357477
SNPdbers80357477
MSV3drs80357477
GWAS Ctlgrs80357477
Max Magnitude0
ClinVar
Risk rs80357477(G;G)
Alt rs80357477(G;G)
Reference rs80357477(A;A)
Significance Other
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41199674T>C
CLNSRC ClinVar
CLNACC RCV000031253.5, RCV000049001.3, RCV000215390.1,