rs35135520, TIMM50

N. diseases: 12
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 visual evoked potential
CUI: C0522214
Disease: Abnormal visual evoked potential
5 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Decreased activity of mitochondrial complex II
2 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Electroretinogram abnormal
CUI: C0476397
Disease: Electroretinogram abnormal
10 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Hypsarrhythmia
CUI: C0684276
Disease: Hypsarrhythmia
7 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Increased serum alanine
CUI: C1849489
Disease: Increased serum alanine
3 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Mitochondrial encephalopathy
CUI: C1852373
Disease: Mitochondrial encephalopathy
8 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
Respiratory arrest
CUI: C0162297
Disease: Respiratory arrest
2 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0