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rs397509046

From SNPedia

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


Make rs397509046(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092348
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509046
dbSNP (classic)rs397509046
ClinGenrs397509046
ebirs397509046
HLIrs397509046
Exacrs397509046
Gnomadrs397509046
Varsomers397509046
LitVarrs397509046
Maprs397509046
PheGenIrs397509046
Biobankrs397509046
1000 genomesrs397509046
hgdprs397509046
ensemblrs397509046
geneviewrs397509046
scholarrs397509046
googlers397509046
pharmgkbrs397509046
gwascentralrs397509046
openSNPrs397509046
23andMers397509046
SNPshotrs397509046
SNPdbers397509046
MSV3drs397509046
GWAS Ctlgrs397509046
Max Magnitude6

aka c.788-1316del

ClinVar
Risk rs397509046(-;-)
Alt rs397509046(-;-)
Reference Rs397509046(A;A)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244365delT
CLNSRC ClinVar
CLNACC RCV000048096.2,