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.
Abducens Nerve Palsy
CUI: C4551519
Disease: Abducens Nerve Palsy
2 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Ataxia, Appendicular
CUI: C0750937
Disease: Ataxia, Appendicular
5 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
9 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Ophthalmoplegia
CUI: C0029089
Disease: Ophthalmoplegia
12 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Poor coordination
CUI: C0563243
Disease: Poor coordination
8 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Progressive encephalopathy
CUI: C1838578
Disease: Progressive encephalopathy
5 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.790 0.240 14 77027279 stop gained C/A;T snv 0.700 0