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: 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: 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: 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: 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: 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: rs730882209
rs730882209
SETX
6 0.925 0.080 9 132326375 frameshift variant -/C 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: rs767982852
rs767982852
RUBCN
6 0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05 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: rs121434621
rs121434621
OPN1LW
3 0.882 0.120 X 154154602 missense variant T/C snv 0.010 1.000 1 2014 2014
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: rs778361520
rs778361520
ADGRB2
9 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs786205579
rs786205579
PRPH2
2 0.925 0.120 6 42721838 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057518836
rs1057518836
NDP ; NDP-AS1
4 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
7 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
4 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
dbSNP: rs1558811557
rs1558811557
CNGA3
5 0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins 0.700 0
dbSNP: rs757788894
rs757788894
CLCN7
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs770703007
rs770703007
MAPK8IP3
8 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0