Disease: Creatine deficiency, X-linked ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs122453115
rs122453115 		1.000 0.120 X 153688833 missense variant G/A snv
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 2002 2015
dbSNP: rs1557043770
rs1557043770 		1.000 0.120 X 153688627 frameshift variant AGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG/CCGTGT delins
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0