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: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894459
rs104894459
NRL
4 0.882 0.080 14 24082701 missense variant A/T snv 0.010 1.000 1 2000 2000
dbSNP: rs104894927
rs104894927
RP2
4 0.882 0.080 X 46853731 stop gained C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs1052954321
rs1052954321
ALPK1
6 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1057518939
rs1057518939
VPS13B
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs1064793014
rs1064793014
ABCA4
1 1 94007707 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs111733491
rs111733491
LRP2
1 2 169236027 missense variant C/A;G;T snv 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs112029032
rs112029032
HGSNAT
4 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.700 1.000 1 2006 2006
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 1.000 2 2002 2016
dbSNP: rs1189889920
rs1189889920
IQCB1
1 3 121790208 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1196489060
rs1196489060
PROM1
1 4 16018318 splice region variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121908180
rs121908180
BBS2
3 0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs121908282
rs121908282
HGSNAT
3 0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 1 2006 2006
dbSNP: rs121909398
rs121909398
CERKL
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs121918244
rs121918244
IQCB1
4 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 1.000 1 2005 2005
dbSNP: rs121918327
rs121918327
BBS12
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs1356104318
rs1356104318
ABCA4
1 1 94098850 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs137852832
rs137852832
CEP290
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
dbSNP: rs137853005
rs137853005
PROM1
3 0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.710 1.000 2 2008 2010
dbSNP: rs137853137
rs137853137
CRB1
4 0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04 0.700 1.000 1 2019 2019