Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs575017579
rs575017579
5 13840968 stop gained G/A;C snv 2.8E-05; 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 4 2009 2016
dbSNP: rs756235547
rs756235547
3 180659582 splice acceptor variant T/C snv 1.2E-04 8.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 4 2011 2013
dbSNP: rs1175443221
rs1175443221
7 21862024 splice donor variant G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2008 2012
dbSNP: rs1346603171
rs1346603171
17 80048762 splice donor variant G/A snv 4.4E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2011 2013
dbSNP: rs1554281038
rs1554281038
7 21787584 splice donor variant G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2008 2012
dbSNP: rs1568709952
rs1568709952
17 80084989 splice donor variant G/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2011 2013
dbSNP: rs727504802
rs727504802
5 13770905 frameshift variant C/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2002 2013
dbSNP: rs750708201
rs750708201
17 80050062 splice acceptor variant A/G snv 1.6E-05 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2011 2013
dbSNP: rs752925056
rs752925056
5 13841051 frameshift variant -/T delins 6.0E-05 4.9E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2002 2016
dbSNP: rs753130398
rs753130398
5 13788865 missense variant C/T snv 1.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2013 2016
dbSNP: rs768986129
rs768986129
6 116628368 splice donor variant TAGG/- delins 1.2E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2009 2013
dbSNP: rs769458738
rs769458738
5 13753489 missense variant C/T snv 2.0E-05 6.3E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2012 2015
dbSNP: rs775696136
rs775696136
5 13701316 frameshift variant -/A delins 6.4E-05 8.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2006 2014
dbSNP: rs878854457
rs878854457
5 13850651 splice donor variant C/G snv 4.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2002 2012
dbSNP: rs886039340
rs886039340
7 21687528 splice donor variant G/C snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2008 2012
dbSNP: rs1060501461
rs1060501461
5 13829661 frameshift variant T/- delins 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2002 2006
dbSNP: rs1060503388
rs1060503388
5 55231653 stop gained G/A snv 5.3E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2014 2015
dbSNP: rs1297857806
rs1297857806
3 50342917 splice donor variant C/T snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2013 2013
dbSNP: rs1304504006
rs1304504006
5 13753490 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2009 2013
dbSNP: rs139519641
rs139519641
16 84174723 splice donor variant G/A snv 4.2E-04 4.0E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2009 2009
dbSNP: rs1484826593
rs1484826593
5 13718880 splice donor variant A/C;T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2002 2006
dbSNP: rs148891849
rs148891849
5 13841895 stop gained G/A;C;T snv 2.2E-05; 8.0E-04; 4.3E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2006 2009
dbSNP: rs1560079213
rs1560079213
3 180616697 splice acceptor variant T/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2011 2013
dbSNP: rs1561097225
rs1561097225
5 13714621 splice acceptor variant C/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2002 2006
dbSNP: rs1561215953
rs1561215953
5 13770982 splice acceptor variant T/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2002 2006