rs199730889, TRMT10C

N. diseases: 2
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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
CUI: C4310773
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
2 1.000 3 101565323 missense variant G/A;T snv 4.0E-06; 1.1E-04 0.800 1.000 1 2016 2016
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 3 101565323 missense variant G/A;T snv 4.0E-06; 1.1E-04 0.700 1.000 1 2016 2016