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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.750 32 2005 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2007 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 1.000 5 2009 2019
dbSNP: rs121909674
rs121909674
8 0.790 0.080 5 162153132 stop gained C/T snv 0.030 0.667 3 2015 2017
dbSNP: rs121918622
rs121918622
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs2011425
rs2011425
1 1.000 0.040 2 233718962 missense variant T/A;G snv 4.0E-05; 0.11 0.030 1.000 3 2011 2018
dbSNP: rs28934904
rs28934904
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.030 1.000 3 2006 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2004 2013
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2017 2017
dbSNP: rs121908225
rs121908225
12 0.790 0.120 19 13365448 missense variant G/A snv 0.020 1.000 2 2009 2010
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2017 2017
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.020 1.000 2 2016 2018
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.020 1.000 2 2010 2015
dbSNP: rs587777057
rs587777057
8 0.827 0.040 16 56336744 missense variant G/A snv 0.020 1.000 2 2017 2019
dbSNP: rs61749721
rs61749721
17 0.732 0.200 X 154031065 stop gained G/A snv 0.020 1.000 2 2010 2015
dbSNP: rs6755571
rs6755571
3 1.000 0.040 2 233718890 missense variant C/A;T snv 3.6E-02; 4.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs796052504
rs796052504
2 0.925 0.080 5 162097716 stop gained C/T snv 0.020 1.000 2 2014 2016
dbSNP: rs886039903
rs886039903
6 0.807 0.200 3 192335434 missense variant C/T snv 0.020 1.000 2 2019 2019
dbSNP: rs10157763
rs10157763
2 1.000 0.040 1 243831739 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs10234411
rs10234411
1 1.000 0.040 7 87535576 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs104894358
rs104894358
3 0.882 0.120 12 4912627 stop gained C/G;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
3 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1057516085
rs1057516085
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057518801
rs1057518801
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018