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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs777547119
rs777547119
HGD
1 1.000 0.040 3 120675839 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs778768887
rs778768887
CRYGD ; LOC100507443
1 1.000 0.040 2 208124472 start lost A/G snv 1.7E-05 0.010 1.000 1 2011 2011
dbSNP: rs782809283
rs782809283
CRYAB ; HSPB2 ; HSPB2-C11orf52
1 1.000 0.040 11 111911693 missense variant C/T snv 1.8E-05 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs867198716
rs867198716
AVP
1 1.000 0.040 20 3082775 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs886055527
rs886055527
CRYGD ; LOC100507443
1 1.000 0.040 2 208121903 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006