Disease: Jalili syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1021713187
rs1021713187
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
CUI: C3495589
Disease:
Jalili syndrome 		0.010 GeneticVariation BEFREE Mutation p.R605X may cause Jalili syndrome by a nonsense-mediated decay mechanism, affecting the function of IQCB1 and apoptosis, or both. 29322253 2018