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: 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
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: 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: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0