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 0.010 1.000 1 2001 2001
dbSNP: rs35565082
rs35565082
RP2
1 1.000 0.080 X 46853840 frameshift variant -/T delins 0.010 1.000 1 2019 2019