Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554247978
RSPH4A
6 116616634 stop gained C/G snv 1
rs118204042
RSPH4A
1.000 0.120 6 116616948 stop gained C/T snv 8.0E-06 1.4E-05 2
rs756868889
RSPH4A
6 116617053 stop gained C/T snv 1.2E-05 7.0E-06 1
rs118204041
RSPH4A
1.000 0.120 6 116617083 stop gained C/T snv 2.0E-05 2
rs1444391928
RSPH4A
6 116617143 frameshift variant A/-;AA delins 1
rs1554248617
RSPH4A
6 116622771 stop gained T/G snv 1
rs869320683
RSPH4A
0.925 0.160 6 116623002 splice region variant AAGT/- delins 2.7E-04 3
rs371374918
RSPH4A
6 116627775 stop gained G/A;T snv 4.0E-06; 8.0E-06 1
rs750528020
RSPH4A
6 116628058 stop gained C/T snv 2.8E-05 4.9E-05 1
rs755782051
RSPH4A
6 116628100 stop gained C/T snv 2.4E-05 2.1E-05 1
rs1034327724
RSPH4A
6 116628160 stop gained C/T snv 8.0E-06 2.1E-05 1
rs118204043
RSPH4A
1.000 0.120 6 116628175 stop gained C/T snv 8.0E-06 2.1E-05 2
rs768986129
RSPH4A
6 116628368 splice donor variant TAGG/- delins 1.2E-05 2.8E-05 1
rs1554249521
RSPH4A
6 116629594 stop gained C/T snv 1
rs902750903
RSPH4A
6 116629610 frameshift variant A/- delins 4.2E-05 1
rs397515424
LRRC6
1.000 8 132632794 frameshift variant TT/- del 2.0E-05 7.0E-06 2
rs397515425
LRRC6
1.000 8 132632816 frameshift variant -/T delins 4.0E-06 2
rs141945265
LRRC6
1.000 8 132632819 stop gained G/A;C snv 1.2E-05; 1.5E-03 2
rs200321595
LRRC6
1.000 8 132632957 missense variant C/G snv 1.6E-04 1.0E-04 2
rs397514596
LRRC6
1.000 8 132656866 missense variant C/G snv 2.7E-05 7.0E-06 2
rs1161303371
DNAH5
5 13700730 missense variant A/G snv 1
rs200901816
DNAH5
1.000 0.160 5 13701289 stop gained G/A snv 6.0E-05 6.3E-05 2
rs775696136
DNAH5
5 13701316 frameshift variant -/A delins 6.4E-05 8.4E-05 1
rs767716511
DNAH5
5 13701349 stop gained G/A snv 8.0E-06 1
rs1561073938
DNAH5
5 13701429 stop gained C/T snv 1