rs397514541, SDHA

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.
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.120 5 240451 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2012 2012
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.925 0.120 5 240451 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2012 2012
Succinate-coenzyme Q reductase deficiency
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
6 0.925 0.120 5 240451 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2012 2012