Gene: RP2 ×
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: rs104894927
rs104894927
RP2
4 0.882 0.080 X 46853731 stop gained C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs1556318633
rs1556318633
RP2
3 0.925 0.080 X 46853725 missense variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs878853381
rs878853381
RP2
1 X 46853880 frameshift variant T/- del 0.700 0