rs1560162116, ALG3

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.
Abnormality of vision
CUI: C4025846
Disease: Abnormality of vision
8 0.882 0.080 3 184242930 missense variant T/C snv 0.700 0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
11 0.882 0.080 3 184242930 missense variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 3 184242930 missense variant T/C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.080 3 184242930 missense variant T/C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 3 184242930 missense variant T/C snv 0.700 0