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rs398122706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122706(G;T)
Make rs398122706(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43095845
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122706
ebirs398122706
HLIrs398122706
Exacrs398122706
Varsomers398122706
Maprs398122706
PheGenIrs398122706
hapmaprs398122706
1000 genomesrs398122706
hgdprs398122706
ensemblrs398122706
gopubmedrs398122706
geneviewrs398122706
scholarrs398122706
googlers398122706
pharmgkbrs398122706
gwascentralrs398122706
openSNPrs398122706
23andMers398122706
23andMe allrs398122706
SNP Nexus

SNPshotrs398122706
SNPdbers398122706
MSV3drs398122706
GWAS Ctlgrs398122706
Max Magnitude0
ClinVar
Risk rs398122706(T;T)
Alt rs398122706(T;T)
Reference rs398122706(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41247862C>A
CLNSRC ClinVar
CLNACC RCV000077178.2, RCV000203857.1, RCV000213883.1,