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: rs151107532
rs151107532
RSPH1
0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2013 2014
dbSNP: rs151107532
rs151107532
RSPH1
0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 1.000 1 2014 2014
dbSNP: rs151107532
rs151107532
RSPH1
0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 0