MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: JOUBERT SYNDROME 28 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775043799
rs775043799
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		CG 0.700 GeneticVariation CLINVAR