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: rs10499298
rs10499298
1 6 155812936 intergenic variant C/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs10499299
rs10499299
1 6 155812754 intergenic variant A/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs17827966
rs17827966
1 6 155817575 regulatory region variant T/C snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs2518344
rs2518344
1 6 101327270 intron variant A/G snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs713050
rs713050
1 6 44124392 intron variant T/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs16995309
rs16995309
4 0.882 0.280 20 50581336 missense variant C/T snv 4.8E-03 5.0E-03 0.010 < 0.001 1 2004 2004
dbSNP: rs2736654
rs2736654
4 0.882 0.120 6 38682852 missense variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs7533564
rs7533564
4 0.925 0.120 1 78360228 intron variant C/T snv 0.92 0.010 < 0.001 1 2016 2016
dbSNP: rs17883901
rs17883901
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs769985775
rs769985775
DMD
6 0.851 0.160 X 32448630 synonymous variant T/C snv 5.7E-06 9.5E-06 0.010 1.000 1 2017 2017
dbSNP: rs713041
rs713041
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.020 1.000 2 2019 2019
dbSNP: rs12976445
rs12976445
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs4746
rs4746
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2003 2003
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1801157
rs1801157
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 < 0.001 1 2012 2012
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2001 2001
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2002 2011