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: rs397515393
rs397515393
1.000 17 80039966 frameshift variant GC/G in-del 4.0E-06; 4.4E-04 3.2E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 8 2011 2017
dbSNP: rs138320978
rs138320978
0.923 0.143 21 42493049 stop gained C/A,T snp 2.6E-04; 2.0E-05 6.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 6 2013 2017
dbSNP: rs145457535
rs145457535
0.923 0.143 17 44902549 missense variant A/C snp 1.2E-03 1.3E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 5 2012 2017
dbSNP: rs397515363
rs397515363
1.000 0.143 9 34459055 splice region variant T/TT in-del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 5 2000 2017
dbSNP: rs397515540
rs397515540
1.000 0.143 5 13753290 frameshift variant GA/G in-del 4.0E-06; 1.6E-04 1.9E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 5 2006 2017
dbSNP: rs575017579
rs575017579
5 13840968 stop gained G/A,C snp 2.8E-05; 8.0E-06 3.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 5 2009 2017
dbSNP: rs752924362
rs752924362
1.000 0.143 17 74309345 stop gained G/A,C snp 1.6E-04; 4.0E-06 3.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 5 2013 2017
dbSNP: rs151107532
rs151107532
0.923 0.143 21 42486463 splice acceptor variant T/G snp 3.7E-04 2.2E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2013 2017
dbSNP: rs200693106
rs200693106
7 21702773 stop gained C/A,T snp 3.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2012 2017
dbSNP: rs200901816
rs200901816
5 13701289 stop gained G/A snp 6.0E-05 6.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2006 2017
dbSNP: rs397515340
rs397515340
0.923 0.143 6 43670919 inframe deletion AGAA/A in-del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2009 2017
dbSNP: rs397515392
rs397515392
1.000 3 180661860 splice donor variant C/G snp 1.6E-04 9.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2011 2017
dbSNP: rs571919972
rs571919972
5 13758881 stop gained G/A snp 5.2E-05 3.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2013 2017
dbSNP: rs587777499
rs587777499
0.923 0.143 5 55233266 frameshift variant C/CGGGCC,CGGGCCGGGCA in-del 3.5E-05; 4.9E-06 3.2E-05; 3.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2014 2017
dbSNP: rs727502971
rs727502971
5 13708264 frameshift variant TTCTG/T in-del 2.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2006 2017
dbSNP: rs727504802
rs727504802
5 13770905 frameshift variant GC/G in-del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2002 2013
dbSNP: rs752925056
rs752925056
5 13841051 frameshift variant A/AT in-del 6.0E-05 6.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2002 2017
dbSNP: rs756235547
rs756235547
3 180659582 splice acceptor variant T/C snp 1.2E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2011 2017
dbSNP: rs768986129
rs768986129
1.000 0.107 6 116628368 splice donor variant CAGGT/C in-del 4.1E-06; 1.2E-05 3.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2009 2017
dbSNP: rs769458738
rs769458738
5 13753489 missense variant C/T snp 2.0E-05 1.9E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2012 2017
dbSNP: rs775696136
rs775696136
5 13701316 frameshift variant T/TA in-del 6.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2006 2017
dbSNP: rs863223325
rs863223325
0.923 0.143 12 48918754 frameshift variant TAT/T in-del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2013 2015
dbSNP: rs878854457
rs878854457
5 13850651 splice donor variant C/G snp 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2002 2017
dbSNP: rs886039340
rs886039340
7 21687528 splice donor variant G/C snp
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2008 2017
dbSNP: rs118204043
rs118204043
1.000 0.107 6 116628175 stop gained C/T snp 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 3 2009 2017