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: rs1285524167
rs1285524167
8 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs730882249
rs730882249
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs2076101
rs2076101
3 0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44 0.010 1.000 1 2016 2016
dbSNP: rs373145711
rs373145711
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
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: rs886039802
rs886039802
6 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
dbSNP: rs121434618
rs121434618
7 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs180177039
rs180177039
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 1.000 5 2006 2008
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1057518759
rs1057518759
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057517718
rs1057517718
4 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs200345816
rs200345816
3 0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs730882250
rs730882250
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs367619008
rs367619008
3 0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs869320624
rs869320624
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs1206736425
rs1206736425
2 1 161626229 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs1057518800
rs1057518800
2 12 13567228 missense variant C/T snv 0.700 0
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.030 1.000 3 2006 2006
dbSNP: rs80356624
rs80356624
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
dbSNP: rs193929337
rs193929337
6 0.827 0.160 11 17387937 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs193929353
rs193929353
4 0.882 0.120 11 17387206 missense variant T/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs193929358
rs193929358
5 0.851 0.240 11 17387091 missense variant C/T snv 0.010 1.000 1 2007 2007