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: rs142371860
rs142371860
DRC1
0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs142371860
rs142371860
DRC1
0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04
CUI: C3809087
Disease: CILIARY DYSKINESIA, PRIMARY, 21
CILIARY DYSKINESIA, PRIMARY, 21 		0.700 0
dbSNP: rs142371860
rs142371860
DRC1
0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0