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rs397509143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509143(AG;AG)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090962
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509143
dbSNP (classic)rs397509143
ClinGenrs397509143
ebirs397509143
HLIrs397509143
Exacrs397509143
Gnomadrs397509143
Varsomers397509143
LitVarrs397509143
Maprs397509143
PheGenIrs397509143
Biobankrs397509143
1000 genomesrs397509143
hgdprs397509143
ensemblrs397509143
geneviewrs397509143
scholarrs397509143
googlers397509143
pharmgkbrs397509143
gwascentralrs397509143
openSNPrs397509143
23andMers397509143
SNPshotrs397509143
SNPdbers397509143
MSV3drs397509143
GWAS Ctlgrs397509143
Max Magnitude6
ClinVar
Risk rs397509143(AG;AG)
Alt rs397509143(AG;AG)
Reference Rs397509143(-;-)
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.41242980_41242981dupCT
CLNSRC ClinVar
CLNACC RCV000048464.2, RCV000256633.2,