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rs80357327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80357327(A;A)
Make rs80357327(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115730
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357327
ebirs80357327
HLIrs80357327
Exacrs80357327
Varsomers80357327
Maprs80357327
PheGenIrs80357327
hapmaprs80357327
1000 genomesrs80357327
hgdprs80357327
ensemblrs80357327
gopubmedrs80357327
geneviewrs80357327
scholarrs80357327
googlers80357327
pharmgkbrs80357327
gwascentralrs80357327
openSNPrs80357327
23andMers80357327
23andMe allrs80357327
SNP Nexus

SNPshotrs80357327
SNPdbers80357327
MSV3drs80357327
GWAS Ctlgrs80357327
Max Magnitude0
ClinVar
Risk rs80357327(A,C,G;A,C,G)
Alt rs80357327(A,C,G;A,C,G)
Reference rs80357327(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41267747A>C; NC_000017.10:g.41267747A>G; NC_000017.10:g.41267747A>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000047411.2, RCV000047410.2, RCV000047409.2, RCV000111838.2, RCV000222092.1,