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: rs3021088
rs3021088
COX1 ; ND2
2 0.925 0.120 MT 5460 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs2073389
rs2073389
2 0.925 0.120 22 23791306 intron variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs2074733
rs2074733
2 0.925 0.120 22 30342598 non coding transcript exon variant T/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs5757573
rs5757573
2 0.925 0.120 22 39237617 intron variant C/T snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs5768709
rs5768709
2 0.925 0.120 22 48533757 intron variant A/G snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs6001516
rs6001516
2 0.925 0.120 22 39248198 intron variant C/T snv 6.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs1153280
rs1153280
2 1.000 0.120 21 29305751 intron variant G/A snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs1153287
rs1153287
1 1.000 0.120 21 29313290 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1153294
rs1153294
1 1.000 0.120 21 29328775 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs117214
rs117214
1 1.000 0.120 21 29348513 intron variant C/T snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs1547374
rs1547374
2 0.925 0.120 21 42358786 downstream gene variant A/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1630747
rs1630747
2 0.925 0.120 21 34085692 intron variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2027605
rs2027605
3 1.000 0.120 21 29354452 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs2236479
rs2236479
2 0.925 0.160 21 45499218 intron variant G/A snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs2832290
rs2832290
1 1.000 0.120 21 29356542 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs372883
rs372883
5 0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs1810636
rs1810636
2 0.925 0.160 20 2674279 regulatory region variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2585428
rs2585428
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs2762932
rs2762932
3 0.882 0.200 20 54151852 downstream gene variant T/C snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs6127119
rs6127119
2 0.925 0.120 20 54162543 intron variant C/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs757748401
rs757748401
3 0.925 0.120 20 51542465 missense variant C/A;T snv 5.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.060 0.833 6 2007 2019
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 0.833 6 2006 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 1.000 4 2006 2016