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: rs1556313552
rs1556313552
RP2
2 0.925 0.080 X 46837202 splice region variant G/A snv 0.700 0
dbSNP: rs1556313557
rs1556313557
RP2
1 1.000 0.040 X 46837205 splice region variant A/C snv 0.700 0
dbSNP: rs1569531639
rs1569531639
RP2
1 1.000 0.040 X 46853857 frameshift variant AGGGC/- delins 0.700 0