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: 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: rs2330991
rs2330991
CRYBB2
1 1.000 0.040 22 25229562 missense variant C/T snv 2.8E-05 0.010 1.000 1 2018 2018
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: rs3754334
rs3754334
EPHA2
2 0.925 0.040 1 16125272 synonymous variant G/A snv 0.28 0.24 0.010 < 0.001 1 2012 2012
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: rs375933774
rs375933774
CRYAB ; HSPB2 ; HSPB2-C11orf52
2 0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05 0.010 1.000 1 2015 2015
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: 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: rs524952
rs524952 		6 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs531379398
rs531379398
GJA3
1 1.000 0.040 13 20143205 synonymous variant C/T snv 8.0E-04 1.2E-04 0.010 1.000 1 2013 2013
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: rs534473091
rs534473091
CRYAB
3 0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs543287988
rs543287988
H6PD
1 1.000 0.040 1 9245277 missense variant G/A snv 4.4E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs587783070
rs587783070
IARS2
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs634990
rs634990 		6 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 0.010 1.000 1 2011 2011
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: rs74315441
rs74315441
CRYAA ; LOC107987300
3 0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs749808170
rs749808170
H6PD
1 1.000 0.040 1 9245103 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs750872744
rs750872744
CRYGC ; LOC100507443
2 0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs751634469
rs751634469
CHMP4B ; ZNF341-AS1
1 1.000 0.040 20 33811532 missense variant C/A;T snv 4.2E-06; 8.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs758842039
rs758842039
CRYBB2
1 1.000 0.040 22 25221431 start lost T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs762772949
rs762772949
CRYGB ; LOC100507443
1 1.000 0.040 2 208145956 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs763964114
rs763964114
GZMM
1 1.000 0.040 19 547343 start lost T/A;C snv 3.6E-05; 1.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs765019311
rs765019311
AVP
2 0.925 0.040 20 3082716 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs767347878
rs767347878
CRYGA
1 1.000 0.040 2 208163280 missense variant C/T snv 6.0E-05 1.4E-05 0.010 1.000 1 2012 2012