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: rs104894914
rs104894914
OPN1MW
4 0.851 0.120 X 154191716 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1057518787
rs1057518787
GPR143
3 0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins 0.700 0
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
4 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
dbSNP: rs1057518836
rs1057518836
NDP ; NDP-AS1
4 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0
dbSNP: rs1057518843
rs1057518843
GALC
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1057518963
rs1057518963
OPHN1
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1114167290
rs1114167290
MYO5A
5 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
dbSNP: rs1114167292
rs1114167292
RUBCN
6 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1135402761
rs1135402761
SYT1
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs121434621
rs121434621
OPN1LW
3 0.882 0.120 X 154154602 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1217391623
rs1217391623
SPG7
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs121907986
rs121907986
HEXB
3 0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121918358
rs121918358
SPG7
5 0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 0.700 1.000 1 2016 2016
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs137852212
rs137852212
FRMD7
2 0.925 0.120 X 132084546 missense variant G/A;C snv 0.010 1.000 1 2008 2008
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: rs137853105
rs137853105
MKS1
4 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.700 0
dbSNP: rs1384483492
rs1384483492
PRPH ; LOC101927267
2 0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05 0.010 1.000 1 2016 2016