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: rs61750654
rs61750654
ABCA4
5 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs539612316
rs539612316
ALMS1
4 0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.020 1.000 2 2017 2018
dbSNP: rs730882241
rs730882241
ARV1
3 1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1177783734
rs1177783734
ASAH1 ; LOC101929066
4 0.925 0.080 8 18083991 missense variant T/G snv 4.5E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs111699024
rs111699024
ATOH7
3 0.925 0.120 10 68231485 missense variant T/C;G snv 8.7E-03; 8.8E-06 0.010 1.000 1 2010 2010
dbSNP: rs1057518822
rs1057518822
CEP290
4 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
dbSNP: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs376493409
rs376493409
CEP290
12 0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 0.700 0
dbSNP: rs886043303
rs886043303
CEP290
5 0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 0.700 0
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.050 1.000 5 2005 2011
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs28936700
rs28936700
CYP1B1 ; CYP1B1-AS1
9 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
2 MT 14598 missense variant T/C snv 0.700 0
dbSNP: rs147394623
rs147394623
DHDDS
4 0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 0.010 1.000 1 2017 2017
dbSNP: rs1553348960
rs1553348960
EFEMP1 ; LOC112268416
5 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
dbSNP: rs763544450
rs763544450
ERG
4 1.000 0.080 21 38445560 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
10 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs104894572
rs104894572
GALK1
2 1.000 0.120 17 75765055 missense variant G/A;T snv 8.9E-06 0.010 1.000 1 1999 1999
dbSNP: rs121909124
rs121909124
GUCA1B
2 1.000 6 42185686 missense variant C/T snv 1.0E-04 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs61750172
rs61750172
GUCY2D
8 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs751529077
rs751529077
MTUS1
1 8 17723780 missense variant G/A;T snv 7.7E-05 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0