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rs397509014

From SNPedia

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


Make rs397509014(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092701
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509014
dbSNP (classic)rs397509014
ClinGenrs397509014
ebirs397509014
HLIrs397509014
Exacrs397509014
Gnomadrs397509014
Varsomers397509014
LitVarrs397509014
Maprs397509014
PheGenIrs397509014
Biobankrs397509014
1000 genomesrs397509014
hgdprs397509014
ensemblrs397509014
geneviewrs397509014
scholarrs397509014
googlers397509014
pharmgkbrs397509014
gwascentralrs397509014
openSNPrs397509014
23andMers397509014
SNPshotrs397509014
SNPdbers397509014
MSV3drs397509014
GWAS Ctlgrs397509014
Max Magnitude6

aka c.788-1669del

ClinVar
Risk rs397509014(-;-)
Alt rs397509014(-;-)
Reference Rs397509014(T;T)
Significance Pathogenic
Disease Familial cancer of breast not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast not provided
Reversed 1
HGVS NC_000017.10:g.41244718delA
CLNSRC ClinVar
CLNACC RCV000047981.2, RCV000482642.1,