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: rs142336618
rs142336618
5 0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 0.700 1.000 7 2013 2017
dbSNP: rs142908436
rs142908436
4 0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05 0.700 1.000 6 2015 2017
dbSNP: rs121908457
rs121908457
13 0.882 0.120 5 137870815 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121908458
rs121908458
4 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs121909518
rs121909518
3 0.882 0.120 7 128858475 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1457591395
rs1457591395
1 1.000 0.120 8 86427804 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs199474724
rs199474724
4 0.851 0.120 1 156134839 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs367543077
rs367543077
3 0.882 0.120 1 235450286 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs369758958
rs369758958
1 1.000 0.120 1 228316753 missense variant C/T snv 3.3E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs376510500
rs376510500
1 1.000 0.120 20 38156054 missense variant G/A snv 2.4E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs548397345
rs548397345
2 0.925 0.120 18 2724901 missense variant G/A;C;T snv 4.9E-06; 4.9E-06; 4.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs57207746
rs57207746
2 0.925 0.120 1 156134860 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs72554656
rs72554656
1 1.000 0.120 X 78042645 stop gained C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs747064211
rs747064211
1 1.000 0.120 6 161350178 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs760251358
rs760251358
DMD
1 1.000 0.120 X 31209642 missense variant T/C snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs869025337
rs869025337
5 0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs975757101
rs975757101
1 1.000 0.120 11 22226034 synonymous variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1057518925
rs1057518925
4 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1553264624
rs1553264624
1 1.000 0.120 1 156130724 inframe deletion AGCGCACGCTGGAGG/- del 0.700 0
dbSNP: rs1553265369
rs1553265369
1 1.000 0.120 1 156134954 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1553265433
rs1553265433
1 1.000 0.120 1 156135208 missense variant G/C snv 0.700 0
dbSNP: rs1553265436
rs1553265436
1 1.000 0.120 1 156135214 inframe deletion GAACAG/- delins 0.700 0
dbSNP: rs1553265761
rs1553265761
1 1.000 0.120 1 156136111 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1553521119
rs1553521119
5 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
dbSNP: rs1553555585
rs1553555585
2 0.925 0.120 2 71570335 splice donor variant G/T snv 0.700 0