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 auditory evoked potential
|
2 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Abnormal behavior
|
121 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Abnormal mitochondria in muscle tissue
|
2 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Abnormal visual evoked potential
|
5 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Absence of pain sensation
|
3 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Aggressive behavior
|
22 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Apathy
|
9 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Babinski Reflex
|
11 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Brain atrophy
|
46 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Facial diplegia
|
4 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Fecal Incontinence
|
12 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Gait, Unsteady
|
14 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
hearing impairment
|
337 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Hirsutism
|
17 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Hyperphagia
|
3 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Inappropriate sexual behavior
|
1 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Intellectual disability, progressive
|
1 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Interictal epileptiform activity
|
2 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Loss of speech
|
8 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Memory impairment
|
48 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Mood swings
|
1 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
MPS III C
|
38 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Poor motor coordination
|
1 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
Poor school performance
|
411 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 |