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.
Generalized Epilepsy and Paroxysmal Dyskinesia
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
4 0.701 0.560 10 76891709 missense variant T/C snv 0.800 0
Abducens Nerve Palsy
CUI: C4551519
Disease: Abducens Nerve Palsy
2 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Abnormality of the aryepiglottic fold
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
1 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Abnormality of the renal collecting system
CUI: C1851303
Disease: Abnormality of the renal collecting system
1 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
amniotic fluid meconium stained
CUI: C0426209
Disease: amniotic fluid meconium stained
4 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Asymmetric crying face association
CUI: C0431406
Disease: Asymmetric crying face association
2 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Cataplexy
CUI: C0007384
Disease: Cataplexy
5 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Cyanotic attack
CUI: C0578475
Disease: Cyanotic attack
3 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Epileptic drop attack
CUI: C0270846
Disease: Epileptic drop attack
6 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Facial muscle weakness of muscles innervated by CN VII
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
3 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Generalized joint laxity
CUI: C1836308
Disease: Generalized joint laxity
6 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Increased axial length of the globe
CUI: C1835117
Disease: Increased axial length of the globe
1 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Increased bilirubin level (finding)
CUI: C0311468
Disease: Increased bilirubin level (finding)
8 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
Nail abnormality
CUI: C0853087
Disease: Nail abnormality
11 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0