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: 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: rs761738142
rs761738142
HSF4 ; NOL3
2 0.925 0.200 16 67169060 stop gained C/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs8702
rs8702
KLC1
5 0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 0.020 1.000 2 2007 2010
dbSNP: rs11260867
rs11260867 		1 1.000 0.040 1 16115233 regulatory region variant C/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs2725383
rs2725383
WRN
6 0.807 0.120 8 31075099 intron variant C/G snv 0.76 0.010 1.000 1 2013 2013
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: 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: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs121909596
rs121909596
CRYGD ; LOC100507443
3 0.925 0.040 2 208124188 missense variant C/T snv 0.030 1.000 3 2005 2018
dbSNP: rs398122937
rs398122937
GJA3
3 0.882 0.040 13 20142862 missense variant C/T snv 0.030 1.000 3 2012 2018
dbSNP: rs150516929
rs150516929
CRYAB
8 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.020 1.000 2 2010 2017
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs121909598
rs121909598
CRYGD ; LOC100507443
3 0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 0.010 1.000 1 2009 2009
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: rs139787163
rs139787163
EPHA2
2 0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 0.010 1.000 1 2013 2013
dbSNP: rs141638421
rs141638421
CRYAB
4 0.882 0.080 11 111908822 missense variant C/T snv 7.2E-05 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs143810759
rs143810759
LIG4
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.010 1.000 1 2011 2011
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: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs370803064
rs370803064
CRYAB
3 0.925 0.200 11 111908781 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
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: rs587783070
rs587783070
IARS2
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014