Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201754030
rs201754030
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03
Combined Oxidative Phosphorylation Deficiency 3
0.700 0
dbSNP: rs201754030
rs201754030
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0