Source: CLINVAR

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
CCDC103 ; FAM187A
0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.800 1.000 5 2012 2018
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
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: rs1060503433
rs1060503433
EFTUD2 ; CCDC103 ; FAM187A
17 44901113 stop gained C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0
dbSNP: rs587776910
rs587776910
CCDC103 ; FAM187A
0.925 0.160 17 44902466 frameshift variant -/G delins
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 0
dbSNP: rs587776910
rs587776910
CCDC103 ; FAM187A
0.925 0.160 17 44902466 frameshift variant -/G delins
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0
dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05
CUI: C4022990
Disease: Dynein arm defect of respiratory motile cilia
Dynein arm defect of respiratory motile cilia 		0.700 0
dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		0.700 0
dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05
CUI: C4022986
Disease: Absent inner and outer dynein arms
Absent inner and outer dynein arms 		0.700 0