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: rs387907359
rs387907359
2 1.000 0.080 12 48981230 missense variant C/T snv 0.700 0
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 < 0.001 2 2003 2007
dbSNP: rs1554606
rs1554606
2 0.925 0.120 7 22729088 intron variant T/A;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs1805094
rs1805094
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs200928985
rs200928985
DMD
1 1.000 0.080 X 31223056 missense variant C/A;T snv 4.4E-05; 1.1E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs201718067
rs201718067
DMD
1 1.000 0.080 X 31223083 missense variant C/A snv 7.6E-05 6.6E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs2229579
rs2229579
2 0.925 0.120 1 23874672 missense variant G/A;T snv 0.10; 8.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs2230911
rs2230911
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 < 0.001 1 2017 2017
dbSNP: rs2288377
rs2288377
2 0.925 0.080 12 102480984 intron variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2302685
rs2302685
5 0.827 0.240 12 12148964 missense variant C/T snv 0.85 0.84 0.010 < 0.001 1 2008 2008
dbSNP: rs235768
rs235768
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 < 0.001 1 2006 2006
dbSNP: rs2393799
rs2393799
3 0.882 0.200 12 121132209 upstream gene variant C/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs6873545
rs6873545
GHR
2 0.925 0.200 5 42631162 intron variant T/C snv 0.31 0.010 < 0.001 1 2014 2014
dbSNP: rs780508132
rs780508132
DMD
2 0.925 0.080 X 32386352 missense variant T/A snv 5.5E-06 1.9E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs7958311
rs7958311
5 0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs972936
rs972936
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 < 0.001 1 2015 2015
dbSNP: rs12585014
rs12585014
2 1.000 0.080 13 42566423 intron variant G/A snv 0.18 0.020 0.500 2 2018 2019
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 0.500 2 2014 2019
dbSNP: rs2273073
rs2273073
3 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 0.020 0.500 2 2006 2008
dbSNP: rs3018362
rs3018362
4 0.882 0.120 18 62414860 upstream gene variant A/G snv 0.67 0.020 0.500 2 2018 2019
dbSNP: rs4237
rs4237
1 1.000 0.080 1 23787639 3 prime UTR variant G/A snv 0.64 0.020 0.500 2 2015 2019
dbSNP: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.030 0.667 3 2014 2018
dbSNP: rs4988321
rs4988321
4 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 0.040 0.750 4 2005 2019
dbSNP: rs3736228
rs3736228
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.090 1.000 9 2005 2017