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rs397509085

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs397509085(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091938
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509085
dbSNP (classic)rs397509085
ClinGenrs397509085
ebirs397509085
HLIrs397509085
Exacrs397509085
Gnomadrs397509085
Varsomers397509085
LitVarrs397509085
Maprs397509085
PheGenIrs397509085
Biobankrs397509085
1000 genomesrs397509085
hgdprs397509085
ensemblrs397509085
geneviewrs397509085
scholarrs397509085
googlers397509085
pharmgkbrs397509085
gwascentralrs397509085
openSNPrs397509085
23andMers397509085
SNPshotrs397509085
SNPdbers397509085
MSV3drs397509085
GWAS Ctlgrs397509085
Max Magnitude6
ClinVar
Risk rs397509085(A;A)
Alt rs397509085(A;A)
Reference Rs397509085(T;T)
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.41243955A>T
CLNSRC ClinVar
CLNACC RCV000048243.2, RCV000256750.2,