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: rs150726175
rs150726175
NMNAT1
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.720 1.000 7 2012 2018
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: rs61749423
rs61749423
ABCA4
3 0.925 0.040 1 94060656 stop gained G/A;T snv 8.0E-06; 4.4E-05 0.700 1.000 1 1999 1999
dbSNP: rs61750130
rs61750130
ABCA4
7 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.010 < 0.001 1 2014 2014
dbSNP: rs61751404
rs61751404
ABCA4
4 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 1.000 1 1998 1998
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: rs62636275
rs62636275
CRB1
4 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.710 1.000 1 2006 2006
dbSNP: rs62636281
rs62636281
CRB1
2 0.925 0.040 1 197442236 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
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
dbSNP: rs62645752
rs62645752
CRB1
3 0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 0.700 1.000 1 2019 2019
dbSNP: rs754768875
rs754768875
USH2A ; LOC102723833
3 0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs760544654
rs760544654
CRB1
1 1.000 0.040 1 197442278 missense variant C/T snv 2.0E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs763325435
rs763325435
NMNAT1
2 0.925 0.040 1 9975672 missense variant C/T snv 4.0E-06; 8.4E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs114342808
rs114342808
CRB1
3 0.882 0.080 1 197421404 stop gained C/T snv 3.2E-05 1.4E-05 0.700 0
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: rs150412614
rs150412614
CRB1
1 1.000 0.040 1 197427555 stop gained C/A;G;T snv 5.6E-04; 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs1553128102
rs1553128102
NMNAT1
1 1.000 0.040 1 9982346 missense variant C/A snv 0.700 0
dbSNP: rs1553152989
rs1553152989
RPE65
1 1.000 0.040 1 68438214 synonymous variant T/C snv 0.700 0
dbSNP: rs1553261468
rs1553261468
CRB1
1 1.000 0.040 1 197427543 frameshift variant -/C delins 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