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: rs138890576
rs138890576
DNAH5
0.882 0.160 5 13844931 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2016 2016
dbSNP: rs138890576
rs138890576
DNAH5
0.882 0.160 5 13844931 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		0.700 1.000 1 2016 2016
dbSNP: rs138890576
rs138890576
DNAH5
0.882 0.160 5 13844931 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		0.700 1.000 1 2016 2016
dbSNP: rs138890576
rs138890576
DNAH5
0.882 0.160 5 13844931 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4025100
Disease: Abnormal respiratory motile cilium morphology
Abnormal respiratory motile cilium morphology 		0.700 1.000 1 2016 2016