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rs397509286

From SNPedia

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


Make rs397509286(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047659
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509286
dbSNP (classic)rs397509286
ClinGenrs397509286
ebirs397509286
HLIrs397509286
Exacrs397509286
Gnomadrs397509286
Varsomers397509286
LitVarrs397509286
Maprs397509286
PheGenIrs397509286
Biobankrs397509286
1000 genomesrs397509286
hgdprs397509286
ensemblrs397509286
geneviewrs397509286
scholarrs397509286
googlers397509286
pharmgkbrs397509286
gwascentralrs397509286
openSNPrs397509286
23andMers397509286
SNPshotrs397509286
SNPdbers397509286
MSV3drs397509286
GWAS Ctlgrs397509286
Max Magnitude6
ClinVar
Risk rs397509286(-;-)
Alt rs397509286(-;-)
Reference Rs397509286(AG;AG)
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.41199676_41199677delCT
CLNSRC ClinVar
CLNACC RCV000049000.2, RCV000256624.2,