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.
Cerebral dysmyelination
CUI: C1854885
Disease: Cerebral dysmyelination
6 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Encephalitis
CUI: C0014038
Disease: Encephalitis
18 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Facial edema
CUI: C0542571
Disease: Facial edema
1 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Meningitis
CUI: C0025289
Disease: Meningitis
13 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
23 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
Unexplained fevers
CUI: C1844662
Disease: Unexplained fevers
4 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0