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rs397509116

From SNPedia

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


Make rs397509116(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091648
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509116
dbSNP (classic)rs397509116
ClinGenrs397509116
ebirs397509116
HLIrs397509116
Exacrs397509116
Gnomadrs397509116
Varsomers397509116
LitVarrs397509116
Maprs397509116
PheGenIrs397509116
Biobankrs397509116
1000 genomesrs397509116
hgdprs397509116
ensemblrs397509116
geneviewrs397509116
scholarrs397509116
googlers397509116
pharmgkbrs397509116
gwascentralrs397509116
openSNPrs397509116
23andMers397509116
SNPshotrs397509116
SNPdbers397509116
MSV3drs397509116
GWAS Ctlgrs397509116
Max Magnitude6

aka c.788-619_788-616del

ClinVar
Risk rs397509116(-;-)
Alt rs397509116(-;-)
Reference Rs397509116(AGCT;AGCT)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243665_41243668delAGCT
CLNSRC ClinVar
CLNACC RCV000048367.2,