Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886037854
rs886037854
MOCOS
1.000 0.080 18 36195283 missense variant G/C snv
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		0.800 1.000 3 2001 2007
dbSNP: rs750896617
rs750896617
MOCOS
1.000 0.080 18 36260092 missense variant C/A;T snv 3.6E-05
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		0.800 0
dbSNP: rs577279030
rs577279030
MOCOS
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 		0.700 1.000 3 2001 2007