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: rs142248415
rs142248415
MANBA
1 1.000 0.080 4 102634957 missense variant A/G;T snv 4.0E-06; 2.1E-03 7.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs781584789
rs781584789
MANBA
1 1.000 0.080 4 102639814 missense variant C/T snv 8.8E-05 1.1E-04 0.010 1.000 1 2015 2015
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: 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
dbSNP: rs786205579
rs786205579
PRPH2
2 0.925 0.120 6 42721838 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs398122845
rs398122845
CASK
2 1.000 0.080 X 41524036 splice acceptor variant T/A;C snv 0.700 0
dbSNP: rs552184470
rs552184470
GUCY2D
2 1.000 0.080 17 8003171 inframe deletion TCTGCT/- delins 1.8E-03 1.9E-03 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: 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: rs746681765
rs746681765
SLC25A46
3 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs1057518787
rs1057518787
GPR143
3 0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins 0.700 0
dbSNP: rs104894914
rs104894914
OPN1MW
4 0.851 0.120 X 154191716 missense variant T/C snv 0.010 1.000 1 2014 2014
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: 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: rs1554558365
rs1554558365
TMEM67
4 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
4 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
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: rs141659620
rs141659620
SPG7
5 0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs61755771
rs61755771
PRPH2
5 0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551
SPG7
5 0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520
SPG7
5 0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523
SPG7
5 0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs879253797
rs879253797
SPG7
5 0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 0.700 1.000 1 2016 2016