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rs397508993

From SNPedia

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


Make rs397508993(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092860
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508993
dbSNP (classic)rs397508993
ClinGenrs397508993
ebirs397508993
HLIrs397508993
Exacrs397508993
Gnomadrs397508993
Varsomers397508993
LitVarrs397508993
Maprs397508993
PheGenIrs397508993
Biobankrs397508993
1000 genomesrs397508993
hgdprs397508993
ensemblrs397508993
geneviewrs397508993
scholarrs397508993
googlers397508993
pharmgkbrs397508993
gwascentralrs397508993
openSNPrs397508993
23andMers397508993
SNPshotrs397508993
SNPdbers397508993
MSV3drs397508993
GWAS Ctlgrs397508993
Max Magnitude6

aka c.788-1828del

ClinVar
Risk rs397508993(-;-)
Alt rs397508993(-;-)
Reference Rs397508993(T;T)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244877delA
CLNSRC ClinVar
CLNACC RCV000047920.2,