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rs397509016

From SNPedia

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


Make rs397509016(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092694
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509016
dbSNP (classic)rs397509016
ClinGenrs397509016
ebirs397509016
HLIrs397509016
Exacrs397509016
Gnomadrs397509016
Varsomers397509016
LitVarrs397509016
Maprs397509016
PheGenIrs397509016
Biobankrs397509016
1000 genomesrs397509016
hgdprs397509016
ensemblrs397509016
geneviewrs397509016
scholarrs397509016
googlers397509016
pharmgkbrs397509016
gwascentralrs397509016
openSNPrs397509016
23andMers397509016
SNPshotrs397509016
SNPdbers397509016
MSV3drs397509016
GWAS Ctlgrs397509016
Max Magnitude6

BRCA1, c.2836_2837delAT (p.Ile946Glnfs)

ClinVar
Risk rs397509016(-;-)
Alt rs397509016(-;-)
Reference Rs397509016(AT;AT)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244711_41244712delAT
CLNSRC ClinVar
CLNACC RCV000241484.2,