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.
Abnormal conjugate eye movement
CUI: C1845274
Disease: Abnormal conjugate eye movement
5 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Abnormality of brainstem morphology
CUI: C1850601
Disease: Abnormality of brainstem morphology
2 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Dementia
CUI: C0497327
Disease: Dementia
176 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Diffuse cerebral atrophy
CUI: C0598275
Disease: Diffuse cerebral atrophy
2 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Facial diplegia
CUI: C1836003
Disease: Facial diplegia
4 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Falls
CUI: C0085639
Disease: Falls
3 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Flexion contracture - wrist
CUI: C0409345
Disease: Flexion contracture - wrist
4 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Gastroparesis
CUI: C0152020
Disease: Gastroparesis
7 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Hyperactive patellar reflex
CUI: C0240116
Disease: Hyperactive patellar reflex
3 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Hyperreflexia in upper limbs
CUI: C1843175
Disease: Hyperreflexia in upper limbs
2 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
Limitation of joint mobility
CUI: C1857108
Disease: Limitation of joint mobility
3 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0