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rs587776793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CATGATTCGAAC;CATGATTCGAAC) 0 common in clinvar
Make rs587776793(-;-)
Make rs587776793(-;CATGATTCGAAC)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position54285934
GenePDGFRA
is asnp
is mentioned by
dbSNPrs587776793
dbSNP (classic)rs587776793
ClinGenrs587776793
ebirs587776793
HLIrs587776793
Exacrs587776793
Gnomadrs587776793
Varsomers587776793
LitVarrs587776793
Maprs587776793
PheGenIrs587776793
Biobankrs587776793
1000 genomesrs587776793
hgdprs587776793
ensemblrs587776793
geneviewrs587776793
scholarrs587776793
googlers587776793
pharmgkbrs587776793
gwascentralrs587776793
openSNPrs587776793
23andMers587776793
SNPshotrs587776793
SNPdbers587776793
MSV3drs587776793
GWAS Ctlgrs587776793
Max Magnitude0
ClinVar
Risk rs587776793(-;-)
Alt rs587776793(-;-)
Reference Rs587776793(CATGATTCGAAC;CATGATTCGAAC)
Significance Pathogenic
Disease Gastrointestinal stromal tumor
Variation info
Gene PDGFRA
CLNDBN Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000004.11:g.55152101_55152112delCATGATTCGAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014503.4,