Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894914
OPN1MW
0.851 0.120 X 154191716 missense variant T/C snv 4
rs1057518787
GPR143
0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins 3
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv 4
rs1057518836
NDP ; NDP-AS1
0.882 0.120 X 43949887 missense variant G/A snv 4
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv 6
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs1114167292
RUBCN
0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 6
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs121434621
OPN1LW
0.882 0.120 X 154154602 missense variant T/C snv 3
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs121907986
HEXB
0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05 3
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 14
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 5
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs137852212
FRMD7
0.925 0.120 X 132084546 missense variant G/A;C snv 2
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 13
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs1384483492
PRPH ; LOC101927267
0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05 2