Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
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
rs200956636
RAB27A
0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 5
rs1555174708
CCDC65
0.925 12 48916993 frameshift variant A/- del 4
rs1566658823
GCH1
1.000 0.120 14 54844138 missense variant A/G snv 4
rs121912633
TRPV4
0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 4