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: rs888630930
rs888630930
1 19 10310616 missense variant G/A snv 0.800 1.000 2 2014 2018
dbSNP: rs121912683
rs121912683
9 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.710 1.000 1 2008 2008
dbSNP: rs587777600
rs587777600
1 19 10315996 missense variant T/A;G snv 0.700 1.000 2 2014 2018
dbSNP: rs786200950
rs786200950
COX1 ; COX2 ; ND2 ; TRNA
1 MT 5631 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs786200951
rs786200951
COX1 ; COX2 ; ND2 ; TRNA
1 MT 5610 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs118203884
rs118203884
COX1 ; ND1 ; ND2 ; TRNM
1 MT 4409 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
2 1.000 0.200 MT 5591 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs121434463
rs121434463
ND4 ; ND5 ; TRNL2
1 MT 12320 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs199474673
rs199474673
COX1 ; ND2 ; TRNW
2 1.000 0.200 MT 5521 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs864321624
rs864321624
1 19 19110790 missense variant A/G snv 0.700 0
dbSNP: rs111677724
rs111677724
1 22 23766251 missense variant G/T snv 1.3E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs137854431
rs137854431
TK2
3 0.925 16 66531432 missense variant G/A snv 4.4E-05 1.3E-04 0.010 1.000 1 2003 2003
dbSNP: rs1389068504
rs1389068504
2 1.000 0.040 14 36684834 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs201078173
rs201078173
SDS
4 0.925 0.280 12 113399616 missense variant C/T snv 8.6E-06 7.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs267607190
rs267607190
3 1.000 0.120 12 108564313 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs587777574
rs587777574
4 0.882 0.040 22 23767459 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs746686166
rs746686166
4 0.925 0.280 2 97646179 missense variant G/A;T snv 6.7E-06 0.010 1.000 1 2008 2008
dbSNP: rs747453853
rs747453853
2 22 28742247 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014