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: rs771663107
rs771663107
DNAH5
0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		0.700 1.000 3 2009 2013
dbSNP: rs771663107
rs771663107
DNAH5
0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2009 2013
dbSNP: rs771663107
rs771663107
DNAH5
0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06
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 2013 2013