Gene: RPGR ×
Source: ALL
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: rs1569237206
rs1569237206
RPGR
2 0.925 0.080 X 38286615 frameshift variant T/- del 0.700 1.000 2 2000 2002
dbSNP: rs1555961832
rs1555961832
RPGR
1 1.000 0.080 X 38286675 frameshift variant TC/- delins 0.700 1.000 1 2002 2002
dbSNP: rs1555961852
rs1555961852
RPGR
2 0.925 0.080 X 38286762 frameshift variant CT/- delins 0.700 1.000 1 2000 2000
dbSNP: rs1555964133
rs1555964133
RPGR
1 1.000 0.080 X 38297325 frameshift variant CT/- delins 0.700 1.000 1 2002 2002
dbSNP: rs62638633
rs62638633
RPGR
1 1.000 0.080 X 38321091 splice acceptor variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs1555961849
rs1555961849
RPGR
1 1.000 0.080 X 38286748 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555961964
rs1555961964
RPGR
1 1.000 0.080 X 38287102 frameshift variant CTGT/- delins 0.700 0
dbSNP: rs1555962831
rs1555962831
RPGR
1 1.000 0.080 X 38290956 splice region variant T/A snv 0.700 0
dbSNP: rs1555962965
rs1555962965
RPGR
1 1.000 0.080 X 38291470 stop gained C/A snv 0.700 0
dbSNP: rs1555964122
rs1555964122
RPGR
1 1.000 0.080 X 38297305 frameshift variant G/- delins 0.700 0
dbSNP: rs1555965653
rs1555965653
RPGR
1 1.000 0.080 X 38304654 frameshift variant -/T delins 0.700 0
dbSNP: rs1555965712
rs1555965712
RPGR
1 1.000 0.080 X 38304793 splice region variant G/T snv 0.700 0
dbSNP: rs1555968526
rs1555968526
RPGR
1 1.000 0.080 X 38323427 missense variant A/C snv 0.700 0
dbSNP: rs1569257917
rs1569257917
RPGR
1 1.000 0.080 X 38317347 frameshift variant GATCCAGGAGA/- delins 0.700 0
dbSNP: rs398122960
rs398122960
RPGR
2 0.925 0.080 X 38286593 frameshift variant CT/- delins 0.700 0
dbSNP: rs527236108
rs527236108
RPGR
1 1.000 0.080 X 38287018 stop gained C/A snv 0.700 0
dbSNP: rs527236109
rs527236109
RPGR
1 1.000 0.080 X 38299113 frameshift variant -/TACC delins 0.700 0
dbSNP: rs527236111
rs527236111
RPGR
1 1.000 0.080 X 38304674 frameshift variant AA/- del 0.700 0
dbSNP: rs527236112
rs527236112
RPGR
1 1.000 0.080 X 38304647 missense variant C/G snv 0.700 0
dbSNP: rs62638646
rs62638646
RPGR
2 0.925 0.280 X 38318828 splice donor variant C/A;T snv 0.700 0
dbSNP: rs62642057
rs62642057
RPGR
3 0.882 0.080 X 38304746 missense variant C/T snv 0.700 0
dbSNP: rs730882261
rs730882261
RPGR
3 0.882 0.080 X 38286572 frameshift variant CT/- delins 0.700 0
dbSNP: rs771039023
rs771039023
RPGR
1 1.000 0.080 X 38298964 stop gained T/A;C snv 1.1E-05 0.700 0