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.
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
6 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.800 0
Abnormal coordination
CUI: C0520966
Disease: Abnormal coordination
4 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Language Disorders
CUI: C0023015
Disease: Language Disorders
25 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Lower limb hyperreflexia
CUI: C1836696
Disease: Lower limb hyperreflexia
6 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Receptive language delay
CUI: C0454642
Disease: Receptive language delay
5 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Saccadic smooth pursuit
CUI: C1836479
Disease: Saccadic smooth pursuit
5 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Severe expressive language delay
CUI: C1851085
Disease: Severe expressive language delay
7 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Slurred speech
CUI: C0234518
Disease: Slurred speech
10 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
Spastic gait
CUI: C0231687
Disease: Spastic gait
9 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0