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: rs28933687
rs28933687
RP2
3 0.882 0.080 X 46853726 missense variant G/A;T snv 0.800 1.000 13 1998 2012
dbSNP: rs104894927
rs104894927
RP2
4 0.882 0.080 X 46853731 stop gained C/T snv 0.720 0.750 4 1999 2018
dbSNP: rs1556318633
rs1556318633
RP2
3 0.925 0.080 X 46853725 missense variant C/T snv 0.700 1.000 13 1998 2012
dbSNP: rs104894925
rs104894925
RP2
1 1.000 0.080 X 46837176 stop gained C/T snv 0.700 0
dbSNP: rs104894926
rs104894926
RP2
1 1.000 0.080 X 46853826 stop gained C/G snv 0.700 0
dbSNP: rs137852284
rs137852284
RP2
2 0.925 0.080 X 46837115 inframe deletion TCC/- delins 0.700 0