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rs730882165

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882165(A;A)
Make rs730882165(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43067684
GeneBRCA1
is asnp
is mentioned by
dbSNPrs730882165
ebirs730882165
HLIrs730882165
Exacrs730882165
Varsomers730882165
Maprs730882165
PheGenIrs730882165
hapmaprs730882165
1000 genomesrs730882165
hgdprs730882165
ensemblrs730882165
gopubmedrs730882165
geneviewrs730882165
scholarrs730882165
googlers730882165
pharmgkbrs730882165
gwascentralrs730882165
openSNPrs730882165
23andMers730882165
23andMe allrs730882165
SNP Nexus

SNPshotrs730882165
SNPdbers730882165
MSV3drs730882165
GWAS Ctlgrs730882165
Max Magnitude0
ClinVar
Risk rs730882165(A,G,T;A,G,T)
Alt rs730882165(A,G,T;A,G,T)
Reference rs730882165(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41219701G>A; NC_000017.10:g.41219701G>T
CLNSRC
CLNACC RCV000166868.1, RCV000162047.1, RCV000214326.1,