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: 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: 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: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
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: rs1163215981
rs1163215981
GZMM
1 1.000 0.040 19 544073 start lost T/C snv 2.6E-05 0.010 1.000 1 2011 2011
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: 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: rs121912973
rs121912973
CRYAA ; LOC107987300
3 0.882 0.040 21 43172105 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121917867
rs121917867
MIP
2 0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs1227057051
rs1227057051
CRYAA ; LOC107987300
2 1.000 0.040 21 43172266 missense variant G/A snv 8.2E-06 0.010 1.000 1 2017 2017
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: 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: rs143507827
rs143507827
CRYGS
1 1.000 0.040 3 186539542 missense variant T/C snv 5.6E-04 2.0E-04 0.010 1.000 1 2013 2013
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: 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: rs17175798
rs17175798
ANKRD34C-AS1
3 0.925 0.040 15 79171618 intron variant C/A;T snv 0.010 < 0.001 1 2011 2011