Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv 11
rs863223408
ACVRL1
0.882 0.160 12 51920832 missense variant G/A snv 4