CERKL, ceramide kinase like, 375298

N. diseases: 50; N. variants: 22
Disease: Macular dystrophy ×
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: rs1553515435
rs1553515435 		0.925 0.040 2 181566055 splice region variant T/C snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0