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: rs1057518922
rs1057518922
RPE65
4 0.925 0.200 1 68431281 splice donor variant C/A;T snv 1.6E-05 0.700 0
dbSNP: rs387906836
rs387906836
TULP1
5 0.851 0.080 6 35503763 missense variant G/A snv 0.700 0