CHDH, choline dehydrogenase, 55349

N. diseases: 158; N. variants: 11
Disease: Hyperhomocysteinemia ×
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: rs9001
rs9001 		0.925 0.080 3 53823890 missense variant T/G snv 0.15 0.17
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009