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: rs755407407
rs755407407
DNAH5
0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2002 2013
dbSNP: rs755407407
rs755407407
DNAH5
0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2002 2013
dbSNP: rs755407407
rs755407407
DNAH5
0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2006 2006