rs1569508922, ALG13

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0