Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs104893968
GUCA1A
0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 3
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs104894459
NRL
0.882 0.080 14 24082701 missense variant A/T snv 1
rs104894927
RP2
0.882 0.080 X 46853731 stop gained C/T snv 3
rs1052954321
ALPK1
0.882 4 112427580 missense variant C/T snv 5
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv 4
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs1064793014
ABCA4
1 94007707 missense variant T/C snv 1
rs111733491
LRP2
2 169236027 missense variant C/A;G;T snv 8.0E-06; 3.6E-05 1
rs112029032
HGSNAT
0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 4
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs1189889920
IQCB1
3 121790208 stop gained G/A snv 7.0E-06 1
rs1196489060
PROM1
4 16018318 splice region variant C/T snv 4.0E-06 1.4E-05 1
rs121434491
EFEMP1 ; LOC112268416
0.752 0.200 2 55871091 missense variant G/A snv 2
rs121908180
BBS2
0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 3
rs121908282
HGSNAT
0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05 3
rs121909398
CERKL
0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 6
rs121918244
IQCB1
0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 4
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs1356104318
ABCA4
1 94098850 stop gained G/A;C snv 4.0E-06 1
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs137853005
PROM1
0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 3
rs137853006
PROM1
0.776 0.080 4 16013299 missense variant G/A snv 6
rs137853137
CRB1
0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 4