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: rs1135402749
rs1135402749
1 1.000 0.040 11 67611934 missense variant T/C snv 0.710 1.000 1 2018 2018
dbSNP: rs121913659
rs121913659
2 0.925 0.040 11 67612225 missense variant C/T snv 1.2E-05 3.5E-05 0.700 1.000 2 1999 2015
dbSNP: rs137852863
rs137852863
5 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 0.700 1.000 2 2005 2016
dbSNP: rs150667550
rs150667550
2 0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04 0.700 1.000 2 2010 2013
dbSNP: rs150966634
rs150966634
1 1.000 0.040 11 67611972 missense variant C/T snv 1.2E-04 1.4E-05 0.700 1.000 2 2008 2013
dbSNP: rs1555703272
rs1555703272
4 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs201430951
rs201430951
7 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs398124308
rs398124308
2 0.925 0.120 11 126275000 frameshift variant -/AGTG delins 0.700 1.000 1 2012 2012
dbSNP: rs752513525
rs752513525
3 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs757043077
rs757043077
3 0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs104893898
rs104893898
1 1.000 0.040 5 53646371 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs104893899
rs104893899
1 1.000 0.040 5 53560706 stop gained G/A snv 0.700 0
dbSNP: rs118161496
rs118161496
2 1.000 0.040 14 31850092 non coding transcript exon variant T/C snv 3.4E-03 3.4E-03 0.700 0
dbSNP: rs121908985
rs121908985
1 1.000 0.040 5 53646345 frameshift variant G/- delins 0.700 0
dbSNP: rs138867882
rs138867882
1 1.000 0.040 11 47580977 missense variant G/A snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs142609245
rs142609245
3 0.882 0.040 2 201078946 missense variant T/C snv 8.5E-04 1.1E-03 0.700 0
dbSNP: rs1445075330
rs1445075330
1 1.000 0.040 5 53683157 frameshift variant -/AAGTC delins 4.0E-06 0.700 0
dbSNP: rs1485032272
rs1485032272
1 1.000 0.040 2 206144919 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs199476116
rs199476116
COX1 ; ND2
1 1.000 0.040 MT 5132 frameshift variant AA/- delins 0.700 0
dbSNP: rs199683937
rs199683937
2 0.925 0.040 11 67611982 splice region variant A/C snv 6.0E-05 4.9E-05 0.700 0
dbSNP: rs201727685
rs201727685
1 1.000 0.040 11 67608562 missense variant T/A;C snv 1.6E-05; 5.2E-05 0.700 0
dbSNP: rs267606888
rs267606888
COX1 ; ND2
1 1.000 0.040 MT 4810 stop gained G/A snv 0.700 0
dbSNP: rs28384199
rs28384199
ND4 ; ND5
3 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 0
dbSNP: rs373075574
rs373075574
1 1.000 0.040 11 126273068 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs376281345
rs376281345
2 0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 0.700 0