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rs80358131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358131(G;G)
Make rs80358131(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115724
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358131
ebirs80358131
HLIrs80358131
Exacrs80358131
Varsomers80358131
Maprs80358131
PheGenIrs80358131
hapmaprs80358131
1000 genomesrs80358131
hgdprs80358131
ensemblrs80358131
gopubmedrs80358131
geneviewrs80358131
scholarrs80358131
googlers80358131
pharmgkbrs80358131
gwascentralrs80358131
openSNPrs80358131
23andMers80358131
23andMe allrs80358131
SNP Nexus

SNPshotrs80358131
SNPdbers80358131
MSV3drs80358131
GWAS Ctlgrs80358131
Max Magnitude0
ClinVar
Risk rs80358131(C,G;C,G)
Alt rs80358131(C,G;C,G)
Reference rs80358131(T;T)
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.41267741A>C; NC_000017.10:g.41267741A>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047428.2, RCV000111849.1, RCV000077064.4, RCV000218784.1,