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: rs370475970
rs370475970
1 16 1985996 missense variant C/T snv 3.2E-05 7.7E-05 0.700 1.000 1 2017 2017
dbSNP: rs370863743
rs370863743
1 6 151436526 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs376902371
rs376902371
2 1.000 17 18308367 missense variant T/C snv 6.4E-05 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs387906899
rs387906899
2 1.000 3 193643609 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs397515421
rs397515421
2 1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs398124298
rs398124298
3 0.925 0.160 3 193647110 missense variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs515726180
rs515726180
1 8 102238827 splice region variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs515726199
rs515726199
2 1.000 0.200 8 102208239 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs746538436
rs746538436
1 5 74746138 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs761283105
rs761283105
1 5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs771894262
rs771894262
1 6 151433213 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs772751581
rs772751581
1 14 22769791 missense variant G/T snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs773470671
rs773470671
1 6 151427481 splice donor variant C/T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs775256289
rs775256289
1 12 32750046 inframe insertion -/TGATCAGACATGACCTCC delins 1.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs797046003
rs797046003
2 1.000 0.080 16 89529575 splice donor variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs80356529
rs80356529
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs80356530
rs80356530
4 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs863224028
rs863224028
1 16 1984415 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs875989831
rs875989831
2 1.000 3 101565595 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs886037771
rs886037771
1 6 151405734 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs886037772
rs886037772
1 6 151436494 stop gained G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037773
rs886037773
1 6 151405719 splice donor variant C/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037835
rs886037835
2 1.000 11 85635669 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1023075742
rs1023075742
2 1.000 22 42090742 start lost C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
1 MT 12271 non coding transcript exon variant T/C snv 0.700 0