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: rs1273352530
rs1273352530
DNAH5
1.000 0.160 5 13830621 stop gained G/A snv
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		0.700 1.000 1 2006 2006
dbSNP: rs1273352530
rs1273352530
DNAH5
1.000 0.160 5 13830621 stop gained G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0