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rs397509125

From SNPedia

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


Make rs397509125(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091532
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509125
dbSNP (classic)rs397509125
ClinGenrs397509125
ebirs397509125
HLIrs397509125
Exacrs397509125
Gnomadrs397509125
Varsomers397509125
LitVarrs397509125
Maprs397509125
PheGenIrs397509125
Biobankrs397509125
1000 genomesrs397509125
hgdprs397509125
ensemblrs397509125
geneviewrs397509125
scholarrs397509125
googlers397509125
pharmgkbrs397509125
gwascentralrs397509125
openSNPrs397509125
23andMers397509125
SNPshotrs397509125
SNPdbers397509125
MSV3drs397509125
GWAS Ctlgrs397509125
Max Magnitude6

aka c.788-500del

ClinVar
Risk rs397509125(-;-)
Alt rs397509125(-;-)
Reference Rs397509125(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.41243549delA
CLNSRC ClinVar
CLNACC RCV000048403.2,