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: rs121908608
rs121908608 		1.000 0.080 5 53108643 missense variant C/A snv 4.1E-06
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 0.800 1.000 5 1999 2006
dbSNP: rs121908605
rs121908605 		1.000 0.080 5 53098667 missense variant C/T snv
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 0.800 1.000 3 1999 2006
dbSNP: rs398122797
rs398122797 		1.000 0.080 5 53098629 frameshift variant TT/- delins 1.0E-04; 4.0E-06 1.2E-04
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 1.000 1 1999 1999
dbSNP: rs121908606
rs121908606 		1.000 0.080 5 53107172 start lost C/T snv 4.0E-06
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
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
dbSNP: rs121908609
rs121908609 		1.000 0.080 5 53098602 stop lost T/G snv 6.4E-05 1.4E-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
dbSNP: rs397518417
rs397518417 		1.000 0.080 5 53109715 start lost CACAGCGGCACCATCCCGCCTAG/- delins
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
dbSNP: rs398122799
rs398122799 		1.000 0.080 5 53107110 frameshift variant G/-;GG delins
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
dbSNP: rs772575104
rs772575104 		1.000 0.080 5 53107173 stop gained A/C;G snv 2.4E-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