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rs397508919

From SNPedia

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


Make rs397508919(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093595
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508919
dbSNP (classic)rs397508919
ClinGenrs397508919
ebirs397508919
HLIrs397508919
Exacrs397508919
Gnomadrs397508919
Varsomers397508919
LitVarrs397508919
Maprs397508919
PheGenIrs397508919
Biobankrs397508919
1000 genomesrs397508919
hgdprs397508919
ensemblrs397508919
geneviewrs397508919
scholarrs397508919
googlers397508919
pharmgkbrs397508919
gwascentralrs397508919
openSNPrs397508919
23andMers397508919
SNPshotrs397508919
SNPdbers397508919
MSV3drs397508919
GWAS Ctlgrs397508919
Max Magnitude6
ClinVar
Risk rs397508919(-;-)
Alt rs397508919(-;-)
Reference Rs397508919(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.41245612delT
CLNSRC ClinVar
CLNACC RCV000047646.2, RCV000257743.2,