Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587780529
rs587780529
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 10134 missense variant C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 10158 missense variant T/C snv 0.700 1.000 4 2003 2005
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 10191 missense variant T/C snv 0.710 1.000 6 2001 2019
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
3 0.882 0.200 MT 10197 missense variant G/A snv 0.800 1.000 2 2007 2009
dbSNP: rs587776438
rs587776438
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.120 MT 10254 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs28384199
rs28384199
ND4 ; ND5
3 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 1.000 2 2003 2004
dbSNP: rs398124308
rs398124308
FOXRED1
2 0.925 0.120 11 126275000 frameshift variant -/AGTG delins 0.700 0
dbSNP: rs267606893
rs267606893
ND5
2 0.925 0.120 MT 12706 missense variant T/C snv 0.800 1.000 5 2002 2007
dbSNP: rs267606896
rs267606896
CYTB ; ND5
3 0.882 0.200 MT 13084 missense variant A/T snv 0.700 1.000 3 2002 2007
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 1.000 5 1998 2013
dbSNP: rs782609482
rs782609482
SURF1
4 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs121918658
rs121918658
SURF1
2 0.925 0.120 9 133352074 missense variant A/C snv 0.700 1.000 7 1998 2012
dbSNP: rs782490558
rs782490558
SURF1
3 0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 0.700 1.000 2 2013 2015
dbSNP: rs1554768246
rs1554768246
SURF1
1 1.000 0.120 9 133352134 frameshift variant -/T delins 0.700 0
dbSNP: rs782349178
rs782349178
SURF1
1 1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05 0.700 1.000 5 2006 2013
dbSNP: rs782007828
rs782007828
SURF1
1 1.000 0.120 9 133352139 splice acceptor variant CTCT/-;CT delins 4.5E-06; 4.5E-06 7.0E-06 0.700 1.000 3 2012 2014
dbSNP: rs1391748504
rs1391748504
SURF1
1 1.000 0.120 9 133352143 splice acceptor variant C/G snv 7.0E-06 0.700 0
dbSNP: rs121918657
rs121918657
SURF1
2 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 1.000 3 1998 2013
dbSNP: rs1319811735
rs1319811735
SURF1
1 1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs782623477
rs782623477
SURF1
1 1.000 0.120 9 133352509 stop gained G/A snv 1.1E-04 7.0E-05 0.700 1.000 6 1999 2014
dbSNP: rs398122806
rs398122806
SURF1
2 0.925 0.120 9 133352518 missense variant A/G snv 0.700 1.000 7 1998 2012
dbSNP: rs1554768333
rs1554768333
SURF1
1 1.000 0.120 9 133352565 frameshift variant CT/- delins 0.700 0
dbSNP: rs147816470
rs147816470
SURF1
1 1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs782190413
rs782190413
SURF1
2 0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 0.700 1.000 5 2002 2014
dbSNP: rs1564349087
rs1564349087
SURF1
2 1.000 0.120 9 133353760 stop gained G/T snv 0.700 0