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: rs397515363
rs397515363
1.000 0.160 9 34459054 splice donor variant -/T delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 6 1999 2018
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: 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: rs397515340
rs397515340
0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2009 2013
dbSNP: rs587777499
rs587777499
0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2014 2016
dbSNP: rs587778822
rs587778822
1.000 0.120 3 180651496 frameshift variant T/- delins 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2011 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: 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: rs863223325
rs863223325
0.925 0.160 12 48918751 frameshift variant AT/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2013 2015
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: 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: 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
dbSNP: rs1561524235
rs1561524235
5 13894822 splice acceptor variant C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2002 2006
dbSNP: rs1561532139
rs1561532139
5 13899532 splice donor variant AAAAACTATCTTGTACTTAAATGGGAACTACTGATTCCCTCCTGCTGCTCCAAATACACTAGTTTCGGTTTTCGCCATCTCCATAACTTGAACTTACAGTCAGGGCCCCTGCATGGTATTGTGCAAGTTATGAAGAATGCAACCTACACAGCATTCTACGGCACCCCTGCTTTAATTCATGGAACTGCTCACACCAAAACCACAGGTATTATTCCTGAGTTCTCTTATAACCTGACTGTTGACATAACTCTAAATTCTCCAAACAACTCTGCTGCCATCCCAGTTCAAGCTCTCATCTTCATCCTGGGCCAGTGCAACACTTCACAAACAGGCTTCCCGCTGATACCCCTCGTCCCTCTTAACATCCATTTTCCACCCAGCAGTAAGAATAACTTTTATTATAAAAAGAGATCGTGCCTTTTTCAGTGGCTCGAAATCCTCCAATGGTTTCCTGGTACACTCAAAATAAAACCCAAGCTTCTCATCTTGGCCTGCAAGACCTGTAACGGCCTGGCCCCAGCCAACTCTGCAGCTGCACCCCATGGCACTGTCCCCTCAGTCACTCCATTCATCCTGGCCACTTTCTGCTCCTTGAATATGACACATCACCATATTTTTTTATAATACATTCCAGAGCTAGCCAAGAATGGGGGGAAAAAATAAAAGTAGTATACCTTCATGTTA/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2002 2006
dbSNP: rs757801770
rs757801770
5 13883096 splice acceptor variant T/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2002 2006
dbSNP: rs771663107
rs771663107
0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2009 2013
dbSNP: rs773801386
rs773801386
1.000 0.120 3 180654861 frameshift variant GT/- delins 4.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 1990 2013
dbSNP: rs863224503
rs863224503
5 13708337 splice acceptor variant T/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 2 2002 2006
dbSNP: rs1161303371
rs1161303371
5 13700730 missense variant A/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2016 2016
dbSNP: rs1444391928
rs1444391928
6 116617143 frameshift variant A/-;AA delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2009 2009
dbSNP: rs387907152
rs387907152
0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2012 2012