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: rs1463326176
rs1463326176
CRYGD ; LOC100507443
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.060 1.000 6 2005 2019
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.040 1.000 4 2011 2019
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: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.030 1.000 3 2008 2015
dbSNP: rs398122937
rs398122937
GJA3
3 0.882 0.040 13 20142862 missense variant C/T snv 0.030 1.000 3 2012 2018
dbSNP: rs104893736
rs104893736
CRYGS
5 0.827 0.040 3 186539566 missense variant C/A snv 0.020 1.000 2 2009 2016
dbSNP: rs398122947
rs398122947
CRYAA ; LOC107987300
3 0.882 0.040 21 43170619 missense variant G/A snv 0.020 1.000 2 2006 2019
dbSNP: rs7543472
rs7543472 		1 1.000 0.040 1 16113897 regulatory region variant C/A;G;T snv 0.020 1.000 2 2012 2016
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: rs11129182
rs11129182
RARB
2 0.925 0.120 3 25129806 intron variant T/C snv 0.82 0.010 1.000 1 2010 2010
dbSNP: rs1114167307
rs1114167307
GJA3
4 0.851 0.200 13 20143233 missense variant G/A snv 0.010 1.000 1 2015 2015
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: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs11574311
rs11574311
WRN
8 0.776 0.160 8 31119144 intron variant T/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs118203965
rs118203965
CHMP4B
2 0.925 0.040 20 33850969 missense variant A/T snv 0.010 1.000 1 2020 2020
dbSNP: rs118203966
rs118203966
CHMP4B
3 0.882 0.040 20 33851064 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1215029143
rs1215029143
IKBKG
2 1.000 0.040 X 154558608 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121909595
rs121909595
CRYGD ; LOC100507443
3 0.925 0.040 2 208124321 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121912973
rs121912973
CRYAA ; LOC107987300
3 0.882 0.040 21 43172105 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121917869
rs121917869
MIP
4 0.851 0.080 12 56453715 missense variant T/C;G snv 0.010 1.000 1 2000 2000
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: 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: rs1483130765
rs1483130765
CRYGS
2 0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17047586
rs17047586
TAFA1
2 0.925 0.120 3 68363724 intron variant A/G snv 8.6E-03 0.010 1.000 1 2010 2010