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rs397509323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509323(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094731
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509323
dbSNP (classic)rs397509323
ClinGenrs397509323
ebirs397509323
HLIrs397509323
Exacrs397509323
Gnomadrs397509323
Varsomers397509323
LitVarrs397509323
Maprs397509323
PheGenIrs397509323
Biobankrs397509323
1000 genomesrs397509323
hgdprs397509323
ensemblrs397509323
geneviewrs397509323
scholarrs397509323
googlers397509323
pharmgkbrs397509323
gwascentralrs397509323
openSNPrs397509323
23andMers397509323
SNPshotrs397509323
SNPdbers397509323
MSV3drs397509323
GWAS Ctlgrs397509323
Max Magnitude6

rs397509323 was merged into rs80357724

ClinVar
Risk rs397509323(T;T)
Alt rs397509323(T;T)
Reference Rs397509323(-;-)
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.41246749dupA
CLNSRC ClinVar
CLNACC RCV000049142.2, RCV000257867.2,