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: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.810 1.000 5 1993 2013
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 5 1990 2007
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9176 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 5 1993 2007
dbSNP: rs267606893
rs267606893
ND5
0.925 0.120 MT 12706 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 3 2002 2007
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
0.882 0.120 MT 14487 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 1 2003 2005
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 1 2007 2009
dbSNP: rs28939711
rs28939711
0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.710 1.000 2 2004 2016
dbSNP: rs397514662
rs397514662
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.710 1.000 2 2004 2016
dbSNP: rs121918658
rs121918658
0.925 0.120 9 133352074 missense variant A/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 7 1998 2012
dbSNP: rs28933402
rs28933402
0.925 0.120 9 133353893 missense variant C/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 7 1998 2012
dbSNP: rs398122806
rs398122806
0.925 0.120 9 133352518 missense variant A/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 7 1998 2012
dbSNP: rs782024654
rs782024654
1.000 0.120 9 133354713 missense variant A/G snv 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 7 1998 2012
dbSNP: rs782033035
rs782033035
1.000 0.120 9 133353894 missense variant C/T snv 1.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 7 1998 2012
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: rs267606896
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 3 2002 2007
dbSNP: rs113994093
rs113994093
1.000 0.120 15 89330241 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 2009 2009
dbSNP: rs113994098
rs113994098
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 2009 2009
dbSNP: rs1352878283
rs1352878283
1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 2016 2016
dbSNP: rs759452074
rs759452074
0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 2016 2016
dbSNP: rs1319811735
rs1319811735
1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 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