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: rs1531554
rs1531554
1 17 81406747 intron variant T/C snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs60249166
rs60249166
1 13 31510764 intergenic variant C/T snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs73271865
rs73271865
1 7 21359709 intergenic variant C/T snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs73460075
rs73460075
DMD
1 X 32265375 intron variant G/C snv 5.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1676303
rs1676303
2 14 76525821 intron variant C/T snv 0.79 0.020 1.000 2 2016 2018
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2020 2020
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs13078961
rs13078961
1 3 137968843 intergenic variant G/C snv 7.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs165656
rs165656
5 0.925 0.200 22 19961340 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2016 2016
dbSNP: rs2241719
rs2241719
1 19 41323676 3 prime UTR variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2273206
rs2273206
5 0.851 0.280 6 152061176 intron variant G/T snv 0.17 0.22 0.010 1.000 1 2018 2018
dbSNP: rs281864931
rs281864931
4 0.882 0.200 2 178527151 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2014 2014
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs5993882
rs5993882
2 22 19950010 intron variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs6269
rs6269
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs6574293
rs6574293
1 14 76404257 intron variant A/G snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs758537709
rs758537709
4 0.882 0.200 2 178549459 missense variant G/A snv 4.1E-05 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs858339
rs858339
3 1.000 0.120 6 131832757 intron variant T/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs909253
rs909253
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9332377
rs9332377
5 0.882 0.120 22 19968169 intron variant C/A;T snv 0.010 1.000 1 2020 2020