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rs80356942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356942(G;T)
Make rs80356942(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045764
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356942
ebirs80356942
HLIrs80356942
Exacrs80356942
Varsomers80356942
Maprs80356942
PheGenIrs80356942
hapmaprs80356942
1000 genomesrs80356942
hgdprs80356942
ensemblrs80356942
gopubmedrs80356942
geneviewrs80356942
scholarrs80356942
googlers80356942
pharmgkbrs80356942
gwascentralrs80356942
openSNPrs80356942
23andMers80356942
23andMe allrs80356942
SNP Nexus

SNPshotrs80356942
SNPdbers80356942
MSV3drs80356942
GWAS Ctlgrs80356942
Max Magnitude0
ClinVar
Risk rs80356942(A,T;A,T)
Alt rs80356942(A,T;A,T)
Reference rs80356942(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41197781C>A; NC_000017.10:g.41197781C>T
CLNSRC ClinVar
CLNACC RCV000049025.2, RCV000112687.1, RCV000112686.1, RCV000168525.2, RCV000195397.2, RCV000219922.1,