Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201518227 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 13
rs1567010427 0.882 14 102010824 missense variant G/A snv 11
rs1559662068 0.925 3 9741340 frameshift variant AG/T delins 10
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs797044524 0.925 21 37486513 missense variant A/T snv 9
rs797044522 0.925 21 37496119 frameshift variant AGAT/- delins 9
rs797044523 0.882 21 37480756 frameshift variant -/A delins 9
rs797044525 0.925 21 37490244 missense variant T/G snv 9
rs797044519 0.925 21 37478285 stop gained C/A;G;T snv 9
rs138008832 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 8
rs1554402092 1.000 7 44254555 missense variant C/T snv 8
rs797044521 0.925 21 37480768 frameshift variant A/- delins 8
rs1057519338 0.882 X 110264571 stop gained G/A snv 8
rs1057518864 0.925 18 55350409 splice acceptor variant C/T snv 7
rs1557106484 X 77633315 missense variant C/A snv 7
rs1564062144 1.000 9 83972190 splice acceptor variant C/T snv 7
rs1556009247 0.882 X 72490973 missense variant A/C;T snv 7
rs1555928716 0.925 X 20167669 stop gained G/A snv 7
rs1057518921 1.000 X 71132465 missense variant G/A snv 7
rs724159953 1.000 21 37505352 stop gained C/T snv 7
rs724159948 1.000 21 37490273 stop gained C/T snv 7
rs797044526 0.925 21 37490393 missense variant C/T snv 7
rs113331868 5 150228191 splice donor variant C/A;T snv 6
rs1555358382 14 54844115 stop gained G/A snv 6
rs724159955 1.000 21 37512002 missense variant C/A snv 6