Disease: Creatine deficiency, X-linked ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043770
rs1557043770
Entrez Id: 6535;139728
Gene Symbol: SLC6A8;PNCK
SLC6A8;PNCK
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		CCGTGT 0.700 CausalMutation CLINVAR