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: rs1250875000
rs1250875000
CRYAA2 ; LOC102724701 ; LOC102724843
2 0.925 0.040 21 6560927 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1305547785
rs1305547785
VIM ; VIM-AS1
1 1.000 0.040 10 17229759 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1314710813
rs1314710813
MIP
1 1.000 0.040 12 56454277 stop gained G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs137853924
rs137853924
CRYGC ; LOC100507443
4 0.851 0.200 2 208128343 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs139609998
rs139609998
CRYGB ; LOC100507443
1 1.000 0.040 2 208145915 missense variant C/A;G snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs140372256
rs140372256
CRYGA
2 0.925 0.040 2 208160859 stop gained C/A;G;T snv 1.5E-04; 1.6E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs147994059
rs147994059
CRYBA1
1 1.000 0.040 17 29250258 missense variant G/A;C;T snv 1.1E-03; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs150857132
rs150857132
CRYGD ; LOC100507443
4 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs17175798
rs17175798
ANKRD34C-AS1
3 0.925 0.040 15 79171618 intron variant C/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2101521
rs2101521
TLR1
3 0.925 0.080 4 38809930 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2289917
rs2289917
CRYGB ; LOC100507443
1 1.000 0.040 2 208146167 upstream gene variant G/A;C snv 0.33; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs33972313
rs33972313
SLC23A1
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs370424081
rs370424081
UNC45B
2 0.925 0.040 17 35183460 missense variant C/G;T snv 6.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs375713569
rs375713569
SDS
2 0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs387907338
rs387907338
CRYAB ; HSPB2 ; HSPB2-C11orf52
5 0.827 0.200 11 111911559 missense variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs387907339
rs387907339
CRYAB
4 0.882 0.280 11 111908967 missense variant C/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs398122392
rs398122392
CRYGC ; LOC100507443
3 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs398122944
rs398122944
CRYGC ; LOC100507443
4 0.851 0.200 2 208128257 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4613984
rs4613984
IDO1
1 1.000 0.040 8 39919023 intron variant G/A;T snv 3.9E-02; 8.2E-06 0.010 1.000 1 2011 2011
dbSNP: rs532063800
rs532063800
H6PD
1 1.000 0.040 1 9245310 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs587778872
rs587778872
CRYGC ; LOC100507443
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs587783070
rs587783070
IARS2
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs644242
rs644242
PAX6
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs6596473
rs6596473
SLC23A1
7 0.807 0.120 5 139374887 intron variant G/C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs727502768
rs727502768
MAF ; LOC101928230
2 0.925 0.240 16 79599697 missense variant G/C snv 0.010 1.000 1 2019 2019