Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 Normal
Make rs80357463(G;G)
Make rs80357463(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051098
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357463
ebirs80357463
HLIrs80357463
Exacrs80357463
Varsomers80357463
Maprs80357463
PheGenIrs80357463
hapmaprs80357463
1000 genomesrs80357463
hgdprs80357463
ensemblrs80357463
gopubmedrs80357463
geneviewrs80357463
scholarrs80357463
googlers80357463
pharmgkbrs80357463
gwascentralrs80357463
openSNPrs80357463
23andMers80357463
23andMe allrs80357463
SNP Nexus

SNPshotrs80357463
SNPdbers80357463
MSV3drs80357463
GWAS Ctlgrs80357463
Max Magnitude0
ClinVar
Risk rs80357463(G;G)
Alt rs80357463(G;G)
Reference rs80357463(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41203115A>C
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000031237.6, RCV000048915.2, RCV000218342.1,