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: rs113994099
rs113994099
8 0.878 0.179 15 89320883 missense variant T/C snp 0.710 1.000 2 2007 2017
dbSNP: rs199474657
rs199474657
15 0.744 0.321 MT 3243 non coding transcript exon variant snp 0.700 3 2001 2016
dbSNP: rs111033573
rs111033573
2 1.000 0.179 10 100989285 missense variant G/A,T snp 0.700 1 2017 2017
dbSNP: rs111033577
rs111033577
2 1.000 0.179 10 100989352 missense variant T/C,G snp 0.700 1 2017 2017
dbSNP: rs1131691575
rs1131691575
1 15 89317469 missense variant C/T snp 8.0E-06 0.700 1 2017 2017
dbSNP: rs113994093
rs113994093
8 0.784 0.107 15 89330241 missense variant C/T snp 1.2E-05 0.700 1 1993 1993
dbSNP: rs113994095
rs113994095
15 0.715 0.286 15 89327201 missense variant C/T snp 5.1E-04 4.5E-04 0.700 1 2017 2017
dbSNP: rs113994100
rs113994100
1 15 89317531 missense variant A/C,G snp 0.700 1 1993 1993
dbSNP: rs113994101
rs113994101
1 15 89317388 frameshift variant C/CG in-del 4.0E-06; 1.2E-05 0.700 1 1993 1993
dbSNP: rs115079861
rs115079861
3 1.000 6 151405236 stop lost C/G,T snp 2.0E-05; 4.0E-03 1.7E-02 0.700 1 2016 2016
dbSNP: rs121918054
rs121918054
7 0.801 0.250 15 89323460 missense variant C/G,T snp 6.9E-04; 4.0E-06 1.2E-03 0.700 1 2017 2017
dbSNP: rs141542003
rs141542003
2 1.000 0.036 11 85636171 missense variant G/T snp 1.1E-03 1.1E-03 0.700 1 2017 2017
dbSNP: rs144972972
rs144972972
2 1.000 6 151430154 missense variant T/C snp 2.0E-04 1.3E-04 0.700 1 2016 2016
dbSNP: rs200944917
rs200944917
1 17 18305208 stop gained G/A,T snp 1.0E-04 6.4E-05 0.700 1 2018 2018
dbSNP: rs2853493
rs2853493
ND4
1 MT 11467 synonymous variant snp 0.700 1 2015 2015
dbSNP: rs28937887
rs28937887
2 10 100989211 missense variant G/A,T snp 0.700 1 2017 2017
dbSNP: rs369227537
rs369227537
2 1.000 0.071 16 89550502 stop gained A/T snp 1.4E-04 6.4E-05 0.700 1 2017 2017
dbSNP: rs370231886
rs370231886
1 10 100989262 missense variant A/G snp 6.8E-05 3.2E-05 0.700 1 2017 2017
dbSNP: rs370475970
rs370475970
1 16 1985996 missense variant C/T snp 3.2E-05 6.4E-05 0.700 1 2017 2017
dbSNP: rs370863743
rs370863743
1 6 151436526 missense variant G/A,T snp 2.4E-05 0.700 1 2016 2016
dbSNP: rs376902371
rs376902371
1 17 18308367 missense variant T/C snp 6.4E-05 0.700 1 2018 2018
dbSNP: rs387906899
rs387906899
2 1.000 0.179 3 193643609 missense variant A/G snp 0.700 1 2017 2017
dbSNP: rs397515421
rs397515421
2 1.000 6 151405787 missense variant C/T snp 2.0E-05 0.700 1 2016 2016
dbSNP: rs398124298
rs398124298
4 0.878 0.214 3 193647110 missense variant C/A,G snp 0.700 1 2017 2017
dbSNP: rs515726180
rs515726180
1 8 102238827 splice region variant C/T snp 8.0E-06 6.4E-05 0.700 1 2017 2017