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: rs121909485
rs121909485
TSFM
1.000 0.160 12 57796539 missense variant C/T snv 3.5E-05
CUI: C1864840
Disease: Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 3 		0.800 1.000 0 2006 2016
dbSNP: rs201754030
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03
CUI: C1864840
Disease: Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 3 		0.700 0
dbSNP: rs201754030
rs201754030
TSFM
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
dbSNP: rs587777688
rs587777688
TSFM
1.000 0.160 12 57796549 missense variant G/A snv 3.5E-05
CUI: C1864840
Disease: Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 3 		0.700 0
dbSNP: rs587777689
rs587777689
TSFM ; EEF1AKMT3
1.000 0.160 12 57782862 missense variant A/G snv
CUI: C1864840
Disease: Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 3 		0.700 0