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rs80358094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358094(C;C)
Make rs80358094(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063873
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358094
ebirs80358094
HLIrs80358094
Exacrs80358094
Varsomers80358094
Maprs80358094
PheGenIrs80358094
hapmaprs80358094
1000 genomesrs80358094
hgdprs80358094
ensemblrs80358094
gopubmedrs80358094
geneviewrs80358094
scholarrs80358094
googlers80358094
pharmgkbrs80358094
gwascentralrs80358094
openSNPrs80358094
23andMers80358094
23andMe allrs80358094
SNP Nexus

SNPshotrs80358094
SNPdbers80358094
MSV3drs80358094
GWAS Ctlgrs80358094
Max Magnitude0
ClinVar
Risk rs80358094(A,C,T;A,C,T)
Alt rs80358094(A,C,T;A,C,T)
Reference rs80358094(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41215890C>A; NC_000017.10:g.41215890C>G; NC_000017.10:g.41215890C>T
CLNSRC Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048820.3, RCV000112516.2, RCV000031223.5, RCV000048819.4, RCV000225766.1, RCV000112514.2, RCV000222947.1,