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rs397509253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397509253(A;T)
Make rs397509253(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051119
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509253
dbSNP (classic)rs397509253
ClinGenrs397509253
ebirs397509253
HLIrs397509253
Exacrs397509253
Gnomadrs397509253
Varsomers397509253
LitVarrs397509253
Maprs397509253
PheGenIrs397509253
Biobankrs397509253
1000 genomesrs397509253
hgdprs397509253
ensemblrs397509253
geneviewrs397509253
scholarrs397509253
googlers397509253
pharmgkbrs397509253
gwascentralrs397509253
openSNPrs397509253
23andMers397509253
SNPshotrs397509253
SNPdbers397509253
MSV3drs397509253
GWAS Ctlgrs397509253
Max Magnitude0
ClinVar
Risk rs397509253(G;G) rs397509253(T;T)
Alt rs397509253(G;G) rs397509253(T;T)
Reference Rs397509253(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41203136T>A; NC_000017.10:g.41203136T>C
CLNSRC ClinVar
CLNACC RCV000048906.2, RCV000258354.1,