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rs80187739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
Make rs80187739(A;A)
Make rs80187739(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43067608
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80187739
ebirs80187739
HLIrs80187739
Exacrs80187739
Varsomers80187739
Maprs80187739
PheGenIrs80187739
hapmaprs80187739
1000 genomesrs80187739
hgdprs80187739
ensemblrs80187739
gopubmedrs80187739
geneviewrs80187739
scholarrs80187739
googlers80187739
pharmgkbrs80187739
gwascentralrs80187739
openSNPrs80187739
23andMers80187739
23andMe allrs80187739
SNP Nexus

SNPshotrs80187739
SNPdbers80187739
MSV3drs80187739
GWAS Ctlgrs80187739
Max Magnitude0
ClinVar
Risk rs80187739(A,C;A,C)
Alt rs80187739(A,C;A,C)
Reference rs80187739(G;G)
Significance Other
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.41219625C>A; NC_000017.10:g.41219625C>G; NC_000017.10:g.41219625C>T
CLNSRC ClinVar
CLNACC RCV000048769.2, RCV000112484.1, RCV000031214.4, RCV000048768.2, RCV000220578.1, RCV000031213.5, RCV000048767.2, RCV000217586.1,