MOCS2, molybdenum cofactor synthesis 2, 4338

N. diseases: 39; N. variants: 9
Disease: Molybdenum Cofactor Deficiency, Complementation Group B ×
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: rs121908607
rs121908607 		0.925 0.080 5 53109714 stop gained G/A;T snv 2.6E-05
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0