Disease: Opsismodysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514510
rs397514510
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		0.800 GeneticVariation UNIPROT Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 23273569 2013
dbSNP: rs397514510
rs397514510
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		T 0.800 CausalMutation CLINVAR