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: rs368260932
rs368260932
DNAH11
1.000 0.160 7 21749702 stop gained C/T snv 4.4E-05 7.7E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2012 2015
dbSNP: rs368260932
rs368260932
DNAH11
1.000 0.160 7 21749702 stop gained C/T snv 4.4E-05 7.7E-05
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.700 0