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rs397509123

From SNPedia

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


Make rs397509123(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091550
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509123
dbSNP (classic)rs397509123
ClinGenrs397509123
ebirs397509123
HLIrs397509123
Exacrs397509123
Gnomadrs397509123
Varsomers397509123
LitVarrs397509123
Maprs397509123
PheGenIrs397509123
Biobankrs397509123
1000 genomesrs397509123
hgdprs397509123
ensemblrs397509123
geneviewrs397509123
scholarrs397509123
googlers397509123
pharmgkbrs397509123
gwascentralrs397509123
openSNPrs397509123
23andMers397509123
SNPshotrs397509123
SNPdbers397509123
MSV3drs397509123
GWAS Ctlgrs397509123
Max Magnitude6
ClinVar
Risk rs397509123(-;-)
Alt rs397509123(-;-)
Reference Rs397509123(G;G)
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.41243567delC
CLNSRC ClinVar
CLNACC RCV000048399.2, RCV000257584.2,