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 color vision
CUI: C0234629
Disease: Abnormal color vision
5 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Abnormality of the cerebral cortex
CUI: C4025701
Disease: Abnormality of the cerebral cortex
8 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Hyperreflexia in upper limbs
CUI: C1843175
Disease: Hyperreflexia in upper limbs
2 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Increased CSF lactate
CUI: C1167918
Disease: Increased CSF lactate
1 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Secondary physiologic amenorrhea
CUI: C0232940
Disease: Secondary physiologic amenorrhea
2 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
15 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
MERRF Syndrome
CUI: C0162672
Disease: MERRF Syndrome
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 0