MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Short extremities ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0239399
Disease:
Short extremities 		T 0.700 CausalMutation CLINVAR