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: rs62638634
rs62638634
RPGR
0.925 0.080 X 38322921 missense variant C/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 1997 2000
dbSNP: rs1060501181
rs1060501181
RPGR
X 38297332 stop gained G/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1555966699
rs1555966699
RPGR
X 38310641 missense variant C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0