Source: UNIPROT

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: rs387906780
rs387906780
0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
0.800 1.000 2 2010 2017
dbSNP: rs137852767
rs137852767
0.925 0.120 5 251011 missense variant C/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 3 1995 2015
dbSNP: rs137852768
rs137852768
0.925 0.080 5 251338 missense variant G/A snv 4.1E-06
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG
0.800 1.000 1 2010 2010
dbSNP: rs137852768
rs137852768
0.925 0.080 5 251338 missense variant G/A snv 4.1E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
0.800 0
dbSNP: rs9809219
rs9809219
0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 0