Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs1557106484 X 77633315 missense variant C/A snv 7
rs1158061584 13 32443086 frameshift variant T/-;TT delins 1
rs1230432769 X 48962751 missense variant G/A snv 2.9E-05 1
rs1259852690 16 30669598 missense variant C/G snv 4.2E-06 2.8E-05 1
rs1297383239 19 1091909 splice acceptor variant T/C snv 4.0E-06 1
rs1333906033 22 49883834 stop gained C/T snv 4.0E-06 1
rs1363884891 18 12673471 missense variant C/T snv 7.0E-06 1
rs141844660 6 99443648 stop gained C/A snv 1.3E-04 1.2E-04 1
rs1430282035 20 34996388 missense variant G/A snv 8.3E-06 1
rs143130309 12 110163027 missense variant C/A;T snv 2.0E-05 1
rs1441510334 5 171436234 missense variant C/T snv 7.0E-06 1
rs144709443 1 19155051 missense variant C/T snv 1.2E-05 1.4E-05 1
rs1456887132 20 35869519 missense variant C/T snv 4.0E-06 1
rs1469540056 22 20982433 missense variant G/C;T snv 5.1E-06 1
rs1480591236 1 228276699 missense variant C/T snv 7.0E-06 1
rs148723879 10 69246212 missense variant C/T snv 9.9E-05 1.2E-04 1
rs150300426 3 49014077 missense variant G/A snv 3.6E-05 1.4E-05 1
rs1557523211 1 55073913 splice region variant G/A snv 1
rs1557810606 1 24814131 missense variant C/T snv 1
rs1557853919 1 153939040 missense variant G/A snv 1
rs1558053119 1 184717581 missense variant A/C snv 1
rs1558553140 2 42659795 missense variant G/A snv 1
rs1560739587 4 140396131 missense variant T/C snv 1
rs1560743601 4 140405975 missense variant G/T snv 1