Gene: RPE65 ×
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: rs1191496583
rs1191496583
RPE65
1 1.000 0.040 1 68444607 missense variant C/T snv 1.6E-05 1.3E-04 0.700 0
dbSNP: rs121918844
rs121918844
RPE65
1 1.000 0.040 1 68444665 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs1420672586
rs1420672586
RPE65
1 1.000 0.040 1 68431282 missense variant C/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1429137932
rs1429137932
RPE65
1 1.000 0.040 1 68446713 missense variant C/A snv 4.8E-05 8.4E-05 0.700 0
dbSNP: rs1553152989
rs1553152989
RPE65
1 1.000 0.040 1 68438214 synonymous variant T/C snv 0.700 0
dbSNP: rs192907397
rs192907397
RPE65
1 1.000 0.040 1 68439568 missense variant C/A;T snv 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs61751279
rs61751279
RPE65
3 0.882 0.080 1 68446862 splice acceptor variant T/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs62642583
rs62642583
RPE65
3 0.882 0.080 1 68444818 frameshift variant AAATTCTGTTATGACGATCC/- delins 0.700 0
dbSNP: rs121917745
rs121917745
RPE65
4 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 0.020 1.000 2 2004 2015
dbSNP: rs121917744
rs121917744
RPE65
4 0.851 0.080 1 68438228 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs1400815962
rs1400815962
RPE65
2 0.925 0.040 1 68431369 missense variant C/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs61752871
rs61752871
RPE65
6 0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2015 2015
dbSNP: rs62636299
rs62636299
RPE65
4 0.882 0.040 1 68431371 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010