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: rs121909518
rs121909518
3 0.882 0.120 7 128858475 stop gained 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: rs368970223
rs368970223
3 0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs72554656
rs72554656
1 1.000 0.120 X 78042645 stop gained C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs387907298
rs387907298
2 0.925 0.200 17 50168562 stop gained C/T snv 5.7E-06 0.700 0
dbSNP: rs549794342
rs549794342
NEB ; RIF1
4 0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs60458016
rs60458016
5 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 0
dbSNP: rs757082154
rs757082154
9 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs770905160
rs770905160
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs886039785
rs886039785
DMD
7 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
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: rs116840805
rs116840805
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2008 2008
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: 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: rs1800553
rs1800553
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs199474724
rs199474724
4 0.851 0.120 1 156134839 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs28933693
rs28933693
3 0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 0.010 1.000 1 2005 2005
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: rs58034145
rs58034145
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2005 2005
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