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rs748876625

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748876625(C;G)
Make rs748876625(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43104122
GeneBRCA1
is asnp
is mentioned by
dbSNPrs748876625
ebirs748876625
HLIrs748876625
Exacrs748876625
Varsomers748876625
Maprs748876625
PheGenIrs748876625
hapmaprs748876625
1000 genomesrs748876625
hgdprs748876625
ensemblrs748876625
gopubmedrs748876625
geneviewrs748876625
scholarrs748876625
googlers748876625
pharmgkbrs748876625
gwascentralrs748876625
openSNPrs748876625
23andMers748876625
23andMe allrs748876625
SNP Nexus

SNPshotrs748876625
SNPdbers748876625
MSV3drs748876625
GWAS Ctlgrs748876625
Max Magnitude0
ClinVar
Risk rs748876625(G;G)
Alt rs748876625(G;G)
Reference rs748876625(C;C)
Significance Probable-Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000017.10:g.41256139C>G
CLNSRC
CLNACC RCV000204808.1, RCV000210978.1, RCV000221620.1,