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: rs28931605
rs28931605
CRYGD ; LOC100507443
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 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: 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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2011 2015
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.020 1.000 2 2008 2015
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: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2008 2008
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: 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: rs1050829
rs1050829
G6PD
5 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-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: 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: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 < 0.001 1 2015 2015
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: 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