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.
Seizures
CUI: C0036572
Disease: Seizures
165 1.000 0.071 3 7578930 missense variant C/A,T snp 4.0E-06 0.700 1 2017 2017
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
21 1.000 0.071 3 7578930 missense variant C/A,T snp 4.0E-06 0.700 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
34 1.000 0.071 3 7578930 missense variant C/A,T snp 4.0E-06 0.700 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
116 1.000 0.071 3 7578930 missense variant C/A,T snp 4.0E-06 0.700 1 2017 2017
Hypomyelination
CUI: C0544820
Disease: Hypomyelination
3 1.000 0.071 3 7578930 missense variant C/A,T snp 4.0E-06 0.700 1 2017 2017
Mental and motor retardation
CUI: C4020875
Disease: Mental and motor retardation
151 1.000 0.071 3 7578930 missense variant C/A,T snp 4.0E-06 0.700 1 2017 2017