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rs80356854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356854(A;A)
Make rs80356854(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43057052
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356854
ebirs80356854
HLIrs80356854
Exacrs80356854
Varsomers80356854
Maprs80356854
PheGenIrs80356854
hapmaprs80356854
1000 genomesrs80356854
hgdprs80356854
ensemblrs80356854
gopubmedrs80356854
geneviewrs80356854
scholarrs80356854
googlers80356854
pharmgkbrs80356854
gwascentralrs80356854
openSNPrs80356854
23andMers80356854
23andMe allrs80356854
SNP Nexus

SNPshotrs80356854
SNPdbers80356854
MSV3drs80356854
GWAS Ctlgrs80356854
Max Magnitude0
ClinVar
Risk rs80356854(A;A)
Alt rs80356854(A;A)
Reference rs80356854(G;G)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41209069C>A; NC_000017.10:g.41209069C>T
CLNSRC ClinVar
CLNACC RCV000215290.1, RCV000048902.2, RCV000112596.1, RCV000216088.1,