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: rs746438011
rs746438011
4 0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 0.700 0
dbSNP: rs760768093
rs760768093
7 0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-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: 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: 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: 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
dbSNP: rs1553846331
rs1553846331
4 0.925 0.120 4 3473504 missense variant C/T snv 0.700 0
dbSNP: rs1556962271
rs1556962271
DMD
2 0.925 0.120 X 31875197 frameshift variant -/AATG delins 0.700 0
dbSNP: rs1557396600
rs1557396600
DMD
2 0.925 0.120 X 32518006 splice donor variant A/C snv 0.700 0
dbSNP: rs1563083759
rs1563083759
6 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
dbSNP: rs200916654
rs200916654
4 0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 0.700 0
dbSNP: rs202247792
rs202247792
5 0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs267607576
rs267607576
2 0.925 0.160 1 156136219 missense variant G/A;C snv 1.2E-05 0.700 0
dbSNP: rs267607634
rs267607634
2 0.925 0.120 1 156136045 missense variant G/A;C snv 0.700 0
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: rs756015202
rs756015202
4 0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 0.700 0
dbSNP: rs886039785
rs886039785
DMD
7 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
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: 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: 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