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rs397509270

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GT) 6 BRCA1 variant considered pathogenic for breast cancer
(GT;GT) 0 common in clinvar
Make rs397509270(AG;AG)
Make rs397509270(AG;GT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049166
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509270
dbSNP (classic)rs397509270
ClinGenrs397509270
ebirs397509270
HLIrs397509270
Exacrs397509270
Gnomadrs397509270
Varsomers397509270
LitVarrs397509270
Maprs397509270
PheGenIrs397509270
Biobankrs397509270
1000 genomesrs397509270
hgdprs397509270
ensemblrs397509270
geneviewrs397509270
scholarrs397509270
googlers397509270
pharmgkbrs397509270
gwascentralrs397509270
openSNPrs397509270
23andMers397509270
SNPshotrs397509270
SNPdbers397509270
MSV3drs397509270
GWAS Ctlgrs397509270
Max Magnitude6
ClinVar
Risk rs397509270(AG;AG)
Alt rs397509270(AG;AG)
Reference Rs397509270(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.41201183_41201184delACinsCT
CLNSRC ClinVar
CLNACC RCV000048958.2, RCV000241378.1,