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: rs1569237206
rs1569237206
RPGR
0.925 0.080 X 38286615 frameshift variant T/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2000 2002
dbSNP: rs1569237206
rs1569237206
RPGR
0.925 0.080 X 38286615 frameshift variant T/- del
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 3 		0.700 0