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: rs137852832
rs137852832
CEP290
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
dbSNP: rs267608622
rs267608622
MECP2
1 1.000 0.200 X 154030540 missense variant G/A snv 1.6E-05 0.010 1.000 1 2011 2011