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rs397508912

From SNPedia

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


Make rs397508912(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106485
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508912
dbSNP (classic)rs397508912
ClinGenrs397508912
ebirs397508912
HLIrs397508912
Exacrs397508912
Gnomadrs397508912
Varsomers397508912
LitVarrs397508912
Maprs397508912
PheGenIrs397508912
Biobankrs397508912
1000 genomesrs397508912
hgdprs397508912
ensemblrs397508912
geneviewrs397508912
scholarrs397508912
googlers397508912
pharmgkbrs397508912
gwascentralrs397508912
openSNPrs397508912
23andMers397508912
SNPshotrs397508912
SNPdbers397508912
MSV3drs397508912
GWAS Ctlgrs397508912
Max Magnitude6
ClinVar
Risk rs397508912(-;-)
Alt rs397508912(-;-)
Reference Rs397508912(GT;GT)
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.41258502_41258503delAC
CLNSRC ClinVar
CLNACC RCV000047603.2, RCV000169282.3,