Disease: JOUBERT SYNDROME 21 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554604482
rs1554604482
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		TG 0.700 CausalMutation CLINVAR