Gene: RPGR ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869312185
rs869312185
RPGR
1 X 38287071 stop gained G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1569235803
rs1569235803
RPGR
1 X 38286052 stop gained C/A snv 0.700 0
dbSNP: rs878853374
rs878853374
RPGR
1 X 38304761 stop gained G/A;T snv 5.5E-06 0.700 0