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: rs62638634
rs62638634
RPGR
0.925 0.080 X 38322921 missense variant C/A snv
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 3 		0.700 0