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: rs137854855
rs137854855
3 0.882 0.200 14 74551108 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs112550005
rs112550005
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs137852981
rs137852981
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs267606826
rs267606826
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs771063992
rs771063992
7 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs137854544
rs137854544
10 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
dbSNP: rs1060499548
rs1060499548
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1064795559
rs1064795559
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs1085307137
rs1085307137
5 0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137852814
rs137852814
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs140119177
rs140119177
7 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 0.700 0
dbSNP: rs143044921
rs143044921
8 0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 0.700 0
dbSNP: rs267606706
rs267606706
CBL
9 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs397507517
rs397507517
8 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs397517148
rs397517148
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs61729366
rs61729366
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs786204858
rs786204858
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 0
dbSNP: rs1064795388
rs1064795388
3 0.882 0.080 8 143829279 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1085307138
rs1085307138
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0