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: rs118204042
rs118204042
RSPH4A
1.000 0.120 6 116616948 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs118204042
rs118204042
RSPH4A
1.000 0.120 6 116616948 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C2675229
Disease: CILIARY DYSKINESIA, PRIMARY, 11
CILIARY DYSKINESIA, PRIMARY, 11 		0.700 0