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rs397509200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509200(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071075
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509200
dbSNP (classic)rs397509200
ClinGenrs397509200
ebirs397509200
HLIrs397509200
Exacrs397509200
Gnomadrs397509200
Varsomers397509200
LitVarrs397509200
Maprs397509200
PheGenIrs397509200
Biobankrs397509200
1000 genomesrs397509200
hgdprs397509200
ensemblrs397509200
geneviewrs397509200
scholarrs397509200
googlers397509200
pharmgkbrs397509200
gwascentralrs397509200
openSNPrs397509200
23andMers397509200
SNPshotrs397509200
SNPdbers397509200
MSV3drs397509200
GWAS Ctlgrs397509200
Max Magnitude6
ClinVar
Risk rs397509200(C;C)
Alt rs397509200(C;C)
Reference Rs397509200(-;-)
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.41223092_41223093insG
CLNSRC ClinVar
CLNACC RCV000048675.2, RCV000257685.2,