Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553654413
rs1553654413
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
C 0.700 CausalMutation CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667

2018