SLC12A4, solute carrier family 12 member 4, 6560

N. diseases: 23; N. variants: 12
Disease: Fish-Eye Disease ×
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: rs121908051
rs121908051 		1.000 0.080 16 67944001 missense variant G/A snv
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 7 1992 2011
dbSNP: rs748427834
rs748427834 		1.000 0.080 16 67943158 missense variant A/T snv 4.0E-06
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs560140762
rs560140762 		1.000 0.080 16 67944067 missense variant G/A snv 1.6E-04 7.0E-05
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004