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rs121908587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908587(C;T)
Make rs121908587(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position54278380
GenePDGFRA
is asnp
is mentioned by
dbSNPrs121908587
dbSNP (classic)rs121908587
ClinGenrs121908587
ebirs121908587
HLIrs121908587
Exacrs121908587
Gnomadrs121908587
Varsomers121908587
LitVarrs121908587
Maprs121908587
PheGenIrs121908587
Biobankrs121908587
1000 genomesrs121908587
hgdprs121908587
ensemblrs121908587
geneviewrs121908587
scholarrs121908587
googlers121908587
pharmgkbrs121908587
gwascentralrs121908587
openSNPrs121908587
23andMers121908587
SNPshotrs121908587
SNPdbers121908587
MSV3drs121908587
GWAS Ctlgrs121908587
Max Magnitude0
OMIM173490
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908587(T;T)
Alt rs121908587(T;T)
Reference Rs121908587(C;C)
Significance Pathogenic
Disease Hypereosinophilic syndrome
Variation info
Gene PDGFRA
CLNDBN Hypereosinophilic syndrome, idiopathic, resistant to imatinib
Reversed 0
HGVS NC_000004.11:g.55144547C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014509.26,