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rs144050370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144050370(G;T)
Make rs144050370(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position150124295
GenePDGFRB
is asnp
is mentioned by
dbSNPrs144050370
ebirs144050370
HLIrs144050370
Exacrs144050370
Varsomers144050370
Maprs144050370
PheGenIrs144050370
hapmaprs144050370
1000 genomesrs144050370
hgdprs144050370
ensemblrs144050370
gopubmedrs144050370
geneviewrs144050370
scholarrs144050370
googlers144050370
pharmgkbrs144050370
gwascentralrs144050370
openSNPrs144050370
23andMers144050370
23andMe allrs144050370
SNP Nexus

SNPshotrs144050370
SNPdbers144050370
MSV3drs144050370
GWAS Ctlgrs144050370
Max Magnitude0
ClinVar
Risk rs144050370(T;T)
Alt rs144050370(T;T)
Reference rs144050370(G;G)
Significance Pathogenic
Disease Infantile myofibromatosis 1
Variation info
Gene PDGFRB
CLNDBN Infantile myofibromatosis 1
Reversed 0
HGVS NC_000005.9:g.149503858G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000049265.20,