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rs80357498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
Make rs80357498(A;A)
Make rs80357498(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115744
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357498
ebirs80357498
HLIrs80357498
Exacrs80357498
Varsomers80357498
Maprs80357498
PheGenIrs80357498
hapmaprs80357498
1000 genomesrs80357498
hgdprs80357498
ensemblrs80357498
gopubmedrs80357498
geneviewrs80357498
scholarrs80357498
googlers80357498
pharmgkbrs80357498
gwascentralrs80357498
openSNPrs80357498
23andMers80357498
23andMe allrs80357498
SNP Nexus

SNPshotrs80357498
SNPdbers80357498
MSV3drs80357498
GWAS Ctlgrs80357498
Max Magnitude0
ClinVar
Risk rs80357498(A,T;A,T)
Alt rs80357498(A,T;A,T)
Reference rs80357498(G;G)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 1
HGVS NC_000017.10:g.41267761C>A; NC_000017.10:g.41267761C>T
CLNSRC ClinVar
CLNACC RCV000030974.3, RCV000206829.1, RCV000030973.5, RCV000047370.2, RCV000222558.1, RCV000235619.1,