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: rs145457535
rs145457535
0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 6 2012 2018
dbSNP: rs138320978
rs138320978
0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 4 2013 2015
dbSNP: rs548521732
rs548521732
1.000 0.160 5 13839530 splice acceptor variant T/C snv 4.0E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 4 2002 2016
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: rs151107532
rs151107532
0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2013 2014
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: rs200901816
rs200901816
1.000 0.160 5 13701289 stop gained G/A snv 6.0E-05 6.3E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2006 2015
dbSNP: rs368260932
rs368260932
1.000 0.160 7 21749702 stop gained C/T snv 4.4E-05 7.7E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2012 2015
dbSNP: rs370706991
rs370706991
1.000 0.120 17 80089763 splice acceptor variant G/A;T snv 4.0E-06; 3.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2011 2013
dbSNP: rs397515392
rs397515392
1.000 0.120 3 180661860 splice donor variant C/G snv 1.6E-04 7.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2011 2013
dbSNP: rs571919972
rs571919972
1.000 0.160 5 13758881 stop gained G/A snv 5.2E-05 4.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2012 2014
dbSNP: rs62638634
rs62638634
0.925 0.080 X 38322921 missense variant C/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 1997 2000
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: rs752924362
rs752924362
1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2013 2015
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: rs753614861
rs753614861
1.000 0.160 5 13830026 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 1990 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: 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: 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: rs118204043
rs118204043
1.000 0.120 6 116628175 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2009 2012