Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs375713569
rs375713569
SDS
0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2007 2007
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
0.716 0.360 15 73929861 intron variant T/C snv 0.60
CUI: C0086543
Disease: Cataract
Cataract 		0.030 1.000 3 2008 2015
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.020 1.000 2 2008 2015
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2008 2008
dbSNP: rs1250875000
rs1250875000
CRYAA2 ; LOC102724701 ; LOC102724843
0.925 0.040 21 6560927 missense variant C/A;T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2008 2008
dbSNP: rs1305547785
rs1305547785
VIM ; VIM-AS1
1.000 0.040 10 17229759 missense variant C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2008 2008
dbSNP: rs150857132
rs150857132
CRYGD ; LOC100507443
0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2008 2008
dbSNP: rs74315441
rs74315441
CRYAA ; LOC107987300
0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2008 2008
dbSNP: rs761738142
rs761738142
HSF4 ; NOL3
0.925 0.200 16 67169060 stop gained C/A;T snv 8.0E-06; 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2008 2008
dbSNP: rs930526408
rs930526408
BFSP2 ; BFSP2-AS1
0.925 0.040 3 133472412 missense variant G/A;T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2008 2008
dbSNP: rs104893736
rs104893736
CRYGS
0.827 0.040 3 186539566 missense variant C/A snv
CUI: C0086543
Disease: Cataract
Cataract 		0.020 1.000 2 2009 2016
dbSNP: rs121909595
rs121909595
CRYGD ; LOC100507443
0.925 0.040 2 208124321 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2009 2009
dbSNP: rs121909598
rs121909598
CRYGD ; LOC100507443
0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2009 2009
dbSNP: rs140372256
rs140372256
CRYGA
0.925 0.040 2 208160859 stop gained C/A;G;T snv 1.5E-04; 1.6E-05; 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2009 2009
dbSNP: rs398122392
rs398122392
CRYGC ; LOC100507443
0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2009 2009
dbSNP: rs777547119
rs777547119
HGD
1.000 0.040 3 120675839 missense variant A/G snv 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2009 2009
dbSNP: rs150516929
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04
CUI: C0086543
Disease: Cataract
Cataract 		0.020 1.000 2 2010 2017
dbSNP: rs11129182
rs11129182
RARB
0.925 0.120 3 25129806 intron variant T/C snv 0.82
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010
dbSNP: rs17047586
rs17047586
TAFA1
0.925 0.120 3 68363724 intron variant A/G snv 8.6E-03
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010
dbSNP: rs387907338
rs387907338
CRYAB ; HSPB2 ; HSPB2-C11orf52
0.827 0.200 11 111911559 missense variant G/A;T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010
dbSNP: rs534473091
rs534473091
CRYAB
0.882 0.040 11 111908925 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010
dbSNP: rs782809283
rs782809283
CRYAB ; HSPB2 ; HSPB2-C11orf52
1.000 0.040 11 111911693 missense variant C/T snv 1.8E-05 4.2E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010
dbSNP: rs8007903
rs8007903
KLC1
0.925 0.120 14 103671306 intron variant A/G snv 0.27
CUI: C0086543
Disease: Cataract
Cataract 		0.010 1.000 1 2010 2010
dbSNP: rs104894201
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0086543
Disease: Cataract
Cataract 		0.040 1.000 4 2011 2019
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0086543
Disease: Cataract
Cataract 		0.020 1.000 2 2011 2015