CHST6, carbohydrate sulfotransferase 6, 4166

N. diseases: 16; N. variants: 44
Disease: Macular corneal dystrophy Type II (disorder) ×
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: rs121917826
rs121917826 		1.000 0.080 16 75479552 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1691013
Disease: Macular corneal dystrophy Type II (disorder)
Macular corneal dystrophy Type II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs28937879
rs28937879 		0.925 0.080 16 75479230 missense variant A/C snv 2.2E-04 2.2E-04
CUI: C1691013
Disease: Macular corneal dystrophy Type II (disorder)
Macular corneal dystrophy Type II (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0