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rs80358042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
Make rs80358042(A;A)
Make rs80358042(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106455
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358042
ebirs80358042
HLIrs80358042
Exacrs80358042
Varsomers80358042
Maprs80358042
PheGenIrs80358042
hapmaprs80358042
1000 genomesrs80358042
hgdprs80358042
ensemblrs80358042
gopubmedrs80358042
geneviewrs80358042
scholarrs80358042
googlers80358042
pharmgkbrs80358042
gwascentralrs80358042
openSNPrs80358042
23andMers80358042
23andMe allrs80358042
SNP Nexus

SNPshotrs80358042
SNPdbers80358042
MSV3drs80358042
GWAS Ctlgrs80358042
Max Magnitude0
ClinVar
Risk rs80358042(A,C,T;A,C,T)
Alt rs80358042(A,C,T;A,C,T)
Reference rs80358042(G;G)
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.41258472C>A; NC_000017.10:g.41258472C>G; NC_000017.10:g.41258472C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047717.2, RCV000112019.1, RCV000218717.1, RCV000047716.2, RCV000112018.1, RCV000031027.4, RCV000047715.2,