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: rs1034327724
rs1034327724
6 116628160 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060500990
rs1060500990
19 48303645 splice region variant C/T snv 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501181
rs1060501181
X 38297332 stop gained G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501454
rs1060501454
5 13780960 splice acceptor variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501455
rs1060501455
5 13788898 stop gained C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501456
rs1060501456
5 13721014 stop gained G/A snv 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501457
rs1060501457
5 13829680 frameshift variant CC/T delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501458
rs1060501458
5 13891020 stop gained G/A snv 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501459
rs1060501459
5 13793713 frameshift variant -/AT delins 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501464
rs1060501464
1.000 0.160 5 13735167 stop gained G/A snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501466
rs1060501466
5 13867773 splice donor variant C/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501467
rs1060501467
5 13708130 stop gained C/A;T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501719
rs1060501719
17 80087748 frameshift variant CA/ACCG delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060501861
rs1060501861
21 42486448 frameshift variant -/T delins 4.0E-06 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060502202
rs1060502202
17 74301057 stop gained G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060502829
rs1060502829
16 84149072 stop gained C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060502831
rs1060502831
19 55161694 frameshift variant -/CGTCG delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060503041
rs1060503041
7 21748743 splice donor variant G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060503063
rs1060503063
7 21842641 stop gained C/T snv 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060503064
rs1060503064
7 21854418 missense variant T/C snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060503095
rs1060503095
15 55497816 frameshift variant GGA/AG delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060503433
rs1060503433
17 44901113 stop gained C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060503495
rs1060503495
9 34485216 frameshift variant T/- del 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1060503515
rs1060503515
9 34506748 frameshift variant C/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs1064792947
rs1064792947
21 42482620 splice donor variant GCTCCGCAACTTACCAT/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0