Disease: Penttinen-Aula syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554108211
rs1554108211
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C1866182
Disease:
Penttinen-Aula syndrome 		0.800 GeneticVariation UNIPROT A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. 26279204 2015
dbSNP: rs1554108211
rs1554108211
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C1866182
Disease:
Penttinen-Aula syndrome 		G 0.800 CausalMutation CLINVAR