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: rs62638637
rs62638637
RPGR
1 1.000 0.080 X 38321041 missense variant G/T snv 0.800 0
dbSNP: rs62642057
rs62642057
RPGR
3 0.882 0.080 X 38304746 missense variant C/T snv 0.800 0
dbSNP: rs137852550
rs137852550
RPGR
3 0.882 0.280 X 38317418 missense variant C/G snv 0.700 1.000 14 1996 2014
dbSNP: rs62635004
rs62635004
RPGR
2 0.925 0.080 X 38297391 missense variant C/T snv 0.700 1.000 14 1996 2014
dbSNP: rs62638629
rs62638629
RPGR
1 1.000 0.080 X 38323426 missense variant C/T snv 0.700 1.000 14 1996 2014
dbSNP: rs1569236971
rs1569236971
RPGR
1 1.000 0.080 X 38286493 frameshift variant CC/- delins 0.700 1.000 3 2000 2007
dbSNP: rs1569237077
rs1569237077
RPGR
1 1.000 0.080 X 38286554 frameshift variant CTCT/- del 0.700 1.000 3 2000 2007
dbSNP: rs398122960
rs398122960
RPGR
2 0.925 0.080 X 38286593 frameshift variant CT/- delins 0.700 1.000 1 2000 2000
dbSNP: rs111631988
rs111631988
RPGR
1 1.000 0.080 X 38322877 missense variant T/C snv 1.6E-02 3.3E-02 0.700 0
dbSNP: rs137852549
rs137852549
RPGR
1 1.000 0.080 X 38286349 stop gained C/A snv 0.700 0
dbSNP: rs138018739
rs138018739
RPGR
1 1.000 0.080 X 38304784 missense variant G/C snv 1.2E-03 3.8E-04 0.700 0
dbSNP: rs1410177435
rs1410177435
RPGR
1 1.000 0.080 X 38300884 intron variant C/T snv 9.5E-05 0.700 0
dbSNP: rs1555961852
rs1555961852
RPGR
2 0.925 0.080 X 38286762 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555965107
rs1555965107
RPGR
1 1.000 0.080 X 38301323 frameshift variant C/- delins 0.700 0
dbSNP: rs1556313552
rs1556313552
RP2
2 0.925 0.080 X 46837202 splice region variant G/A snv 0.700 0
dbSNP: rs1569235677
rs1569235677
RPGR
1 1.000 0.080 X 38286003 frameshift variant CTTC/- delins 0.700 0
dbSNP: rs1569237206
rs1569237206
RPGR
2 0.925 0.080 X 38286615 frameshift variant T/- del 0.700 0
dbSNP: rs1569238659
rs1569238659
RPGR
1 1.000 0.080 X 38287943 frameshift variant T/- delins 0.700 0
dbSNP: rs1569258901
rs1569258901
RPGR
1 1.000 0.080 X 38318875 frameshift variant C/- del 0.700 0
dbSNP: rs62638630
rs62638630
RPGR
1 1.000 0.080 X 38323425 missense variant C/T snv 0.700 0
dbSNP: rs62638634
rs62638634
RPGR
4 0.925 0.080 X 38322921 missense variant C/A snv 0.700 0
dbSNP: rs62638636
rs62638636
RPGR
1 1.000 0.080 X 38321043 missense variant G/A;T snv 2.2E-05 0.700 0
dbSNP: rs62638643
rs62638643
RPGR
1 1.000 0.080 X 38318919 missense variant T/C snv 0.700 0
dbSNP: rs62638644
rs62638644
RPGR
1 1.000 0.080 X 38318909 missense variant A/C snv 0.700 0
dbSNP: rs62638651
rs62638651
RPGR
1 1.000 0.080 X 38310690 missense variant G/A snv 0.700 0