MOCOS, molybdenum cofactor sulfurase, 55034

N. diseases: 81; N. variants: 5
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: rs886037854
rs886037854 		1.000 0.080 18 36195283 missense variant G/C snv
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2001 2007
dbSNP: rs750896617
rs750896617 		1.000 0.080 18 36260092 missense variant C/A;T snv 3.6E-05
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs577279030
rs577279030 		1.000 0.080 18 36200264 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2001 2007
dbSNP: rs190343823
rs190343823 		18 36255373 intron variant T/C snv 3.6E-04
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs886037855
rs886037855 		1.000 0.080 18 36205092 frameshift variant -/A delins
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0