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: rs1057518834
rs1057518834
DMD
9 X 32849737 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518905
rs1057518905
3 1 155140104 missense variant A/T snv 0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
6 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs121908188
rs121908188
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
dbSNP: rs121908457
rs121908457
13 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
dbSNP: rs1554887097
rs1554887097
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
dbSNP: rs1563083759
rs1563083759
6 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
dbSNP: rs1569518070
rs1569518070
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs199564797
rs199564797
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs201518227
rs201518227
13 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
dbSNP: rs543860009
rs543860009
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs55960271
rs55960271
5 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.700 0
dbSNP: rs745886248
rs745886248
25 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 0.700 0
dbSNP: rs757917335
rs757917335
6 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
dbSNP: rs80338800
rs80338800
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs878854378
rs878854378
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0