rs797044891, TIMM50

N. diseases: 3
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.120 19 39488169 missense variant G/A snv 0.700 1.000 12 2000 2017
3-Methylglutaconic Aciduria
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
1 0.925 0.120 19 39488169 missense variant G/A snv 0.010 1.000 1 2017 2017
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.925 0.120 19 39488169 missense variant G/A snv 0.010 1.000 1 2017 2017