Source: ALL
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: rs1024205493
rs1024205493
WFS1
1 1.000 0.160 4 6301350 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs11258194
rs11258194
OPTN
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs11539445
rs11539445
YARS2
2 0.925 0.160 12 32755303 missense variant C/A;T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1421865028
rs1421865028
TXNRD1
1 1.000 0.160 12 104319585 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1447956961
rs1447956961
GLIS3
1 1.000 0.160 9 4286272 missense variant C/T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs201336180
rs201336180
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
2 0.925 0.200 MT 8684 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs3928306
rs3928306
ND1 ; ND2 ; RNR2
2 0.925 0.160 MT 3010 non coding transcript exon variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs776254971
rs776254971
NDUFS7
2 0.925 0.240 19 1388873 missense variant A/G snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1402000
rs1402000
PARL
1 1.000 0.160 3 183867753 intron variant T/A;C snv 0.020 1.000 2 2010 2010
dbSNP: rs3749446
rs3749446
PARL
1 1.000 0.160 3 183868217 intron variant C/T snv 0.70 0.020 1.000 2 2010 2010
dbSNP: rs28616230
rs28616230
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4171 missense variant C/A;T snv 0.700 1.000 5 2002 2014
dbSNP: rs869025186
rs869025186
CYTB ; ND5 ; ND6
1 1.000 0.160 MT 14498 missense variant T/C snv 0.700 1.000 5 1992 2001
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
3 0.882 0.280 MT 13708 missense variant G/A snv 0.700 1.000 4 1991 2005
dbSNP: rs397515507
rs397515507
ND1 ; ND2
1 1.000 0.160 MT 3635 missense variant G/A snv 0.700 1.000 4 2001 2014
dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
2 1.000 0.160 MT 13051 missense variant G/A snv 0.700 1.000 2 2003 2016
dbSNP: rs1556423844
rs1556423844
ND3 ; ND4 ; ND4L ; ND5
1 1.000 0.160 MT 10663 missense variant T/C snv 0.700 1.000 2 1995 2002
dbSNP: rs267606898
rs267606898
CYTB ; ND5
4 0.851 0.240 MT 13042 missense variant G/A snv 0.700 1.000 2 2006 2008
dbSNP: rs28357980
rs28357980
COX1 ; ND2
1 1.000 0.160 MT 4917 missense variant A/G snv 0.700 1.000 2 1991 1992
dbSNP: rs28384199
rs28384199
ND4 ; ND5
3 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 1.000 2 2003 2003
dbSNP: rs199476134
rs199476134
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.160 MT 9101 missense variant T/C snv 0.700 1.000 1 1995 1995
dbSNP: rs41518645
rs41518645
CYTB ; ND6
3 0.925 0.200 MT 15257 missense variant G/A snv 0.700 1.000 1 1992 1992
dbSNP: rs1553249704
rs1553249704
NDUFS2
1 1.000 0.160 1 161206472 missense variant G/A snv 0.700 0
dbSNP: rs1599988
rs1599988
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4216 missense variant T/C snv 0.700 0
dbSNP: rs193302933
rs193302933
ND3 ; ND4 ; ND4L ; ND5
1 1.000 0.160 MT 10664 synonymous variant C/T snv 0.700 0
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
4 0.851 0.200 MT 14459 missense variant G/A snv 0.700 0