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.
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
8 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Nystagmus
CUI: C0028738
Disease: Nystagmus
33 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Hemiparesis
CUI: C0018989
Disease: Hemiparesis
4 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Mental and motor retardation
CUI: C4020875
Disease: Mental and motor retardation
151 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Decreased visual acuity, progressive
5 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
6 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
2 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Seizures
CUI: C0036572
Disease: Seizures
165 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Strabismus
CUI: C0038379
Disease: Strabismus
20 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Amblyopia
CUI: C0002418
Disease: Amblyopia
4 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
3 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
6 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
7 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
EMG: axonal abnormality
CUI: C4025609
Disease: EMG: axonal abnormality
4 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Dysmyelinating leukodystrophy
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
2 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Psychomotor regression in infants
CUI: C1855009
Disease: Psychomotor regression in infants
9 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
3 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
5 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015