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rs367543286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs367543286(C;T)
Make rs367543286(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150125571
GenePDGFRB
is asnp
is mentioned by
dbSNPrs367543286
ebirs367543286
HLIrs367543286
Exacrs367543286
Varsomers367543286
Maprs367543286
PheGenIrs367543286
hapmaprs367543286
1000 genomesrs367543286
hgdprs367543286
ensemblrs367543286
gopubmedrs367543286
geneviewrs367543286
scholarrs367543286
googlers367543286
pharmgkbrs367543286
gwascentralrs367543286
openSNPrs367543286
23andMers367543286
23andMe allrs367543286
SNP Nexus

SNPshotrs367543286
SNPdbers367543286
MSV3drs367543286
GWAS Ctlgrs367543286
Max Magnitude0
ClinVar
Risk rs367543286(T;T)
Alt rs367543286(T;T)
Reference rs367543286(C;C)
Significance Pathogenic
Disease Infantile myofibromatosis 1
Variation info
Gene PDGFRB
CLNDBN Infantile myofibromatosis 1
Reversed 1
HGVS NC_000005.9:g.149505134G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000049264.27,