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: rs397515340
rs397515340
MRPS18A ; RSPH9
0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2009 2013
dbSNP: rs397515340
rs397515340
MRPS18A ; RSPH9
0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0
dbSNP: rs397515340
rs397515340
MRPS18A ; RSPH9
0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05
CUI: C2675228
Disease: CILIARY DYSKINESIA, PRIMARY, 12
CILIARY DYSKINESIA, PRIMARY, 12 		0.700 0