rs769234940, CHAT

N. diseases: 11
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.
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Aspiration Pneumonia
CUI: C0032290
Disease: Aspiration Pneumonia
4 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Decreased activity of the pyruvate dehydrogenase complex
3 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
External Ophthalmoplegia
CUI: C0162292
Disease: External Ophthalmoplegia
6 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Progressive ptosis
CUI: C1834015
Disease: Progressive ptosis
2 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
Sleep Apnea, Central
CUI: C0520680
Disease: Sleep Apnea, Central
17 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0