Source: ALL
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: rs121917763
rs121917763
TH
4 1.000 0.036 11 2167896 missense variant A/G snp 1.2E-05 0.710 < 0.001 9 1991 2017
dbSNP: rs80358233
rs80358233
3 1.000 0.071 9 129814065 inframe deletion CCTC/C in-del 0.700 4 1993 2017
dbSNP: rs797045055
rs797045055
ND6
2 1.000 0.071 MT 14597 missense variant snp 0.700 2 2013 2017
dbSNP: rs1057518942
rs1057518942
5 0.846 0.143 18 23544424 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs113371321
rs113371321
1 18 23534477 missense variant G/A,C snp 1.2E-04 3.2E-05 0.700 1 2015 2015
dbSNP: rs398122845
rs398122845
3 1.000 0.071 X 41524036 splice acceptor variant T/A,C snp 0.700 1 2015 2015
dbSNP: rs515726205
rs515726205
7 0.878 0.036 19 29702966 missense variant C/T snp 2.4E-05 0.700 1 2015 2015
dbSNP: rs74315442
rs74315442
11 0.821 0.179 21 43774297 stop gained G/A snp 4.0E-05 9.6E-05 0.700 1 2015 2015
dbSNP: rs1114167290
rs1114167290
5 0.923 0.071 15 52340235 stop gained G/C snp 0.700 0
dbSNP: rs1801968
rs1801968
6 0.878 0.036 9 129818622 missense variant C/G,T snp 0.13; 4.0E-06 0.11 0.020 0.500 2 2014 2017
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.020 0.500 2 2009 2014
dbSNP: rs727502811
rs727502811
6 0.878 0.071 9 129814108 missense variant C/T snp 9.1E-05 9.6E-05 0.020 1.000 2 2009 2015
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.020 0.500 2 2009 2014
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 1.000 1 2010 2010
dbSNP: rs104893877
rs104893877
31 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2016 2016
dbSNP: rs104894442
rs104894442
3 1.000 0.036 14 54844023 missense variant C/G snp 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1182
rs1182
3 1.000 0.036 9 129813781 3 prime UTR variant C/A snp 0.17 0.010 1.000 1 2009 2009
dbSNP: rs121434410
rs121434410
3 1.000 0.036 2 178436264 missense variant G/A snp 9.9E-05 9.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs121908683
rs121908683
5 0.923 0.071 22 38115667 missense variant G/A snp 9.0E-06 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs121908686
rs121908686
5 0.923 0.036 22 38112558 missense variant C/T snp 9.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs146087734
rs146087734
2 8 42843038 synonymous variant G/A snp 7.6E-05 6.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs149712244
rs149712244
6 1.000 0.071 22 38116155 missense variant C/T snp 3.6E-05 6.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
54 0.602 0.500 7 87531302 missense variant A/C,T snp 0.54; 3.8E-02 0.64; 2.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs35153737
rs35153737
2 9 129813558 3 prime UTR variant AC/A in-del 0.010 1.000 1 2018 2018
dbSNP: rs530348521
rs530348521
3 22 38112559 missense variant G/A snp 6.5E-06 0.010 1.000 1 2016 2016