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: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0086543
Disease: Cataract
Cataract 		0.700 1.000 1 2017 2017
dbSNP: rs587783070
rs587783070
IARS2
0.925 0.040 1 220143109 missense variant C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 1.000 1 2014 2014
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
0.882 0.080 21 45509554 stop gained C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs1303044966
rs1303044966
ABHD12
0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs1339616347
rs1339616347
WRN
0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs142285818
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs1423415130
rs1423415130
XYLT2
0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
0.851 0.240 9 134701287 missense variant G/T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs1568480054
rs1568480054
LIM2
0.925 0.200 19 51380577 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs1463326176
rs1463326176
CRYGD ; LOC100507443
0.851 0.200 2 208124291 frameshift variant TGGG/- del
CUI: C0086543
Disease: Cataract
Cataract 		0.060 1.000 6 2005 2019
dbSNP: rs28931605
rs28931605
CRYGD ; LOC100507443
0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05
CUI: C0086543
Disease: Cataract
Cataract 		0.060 1.000 6 2005 2019
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: rs121909596
rs121909596
CRYGD ; LOC100507443
0.925 0.040 2 208124188 missense variant C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.030 1.000 3 2005 2018
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: rs398122937
rs398122937
GJA3
0.882 0.040 13 20142862 missense variant C/T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.030 1.000 3 2012 2018
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: 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: 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
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: rs398122947
rs398122947
CRYAA ; LOC107987300
0.882 0.040 21 43170619 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		0.020 1.000 2 2006 2019
dbSNP: rs7543472
rs7543472 		1.000 0.040 1 16113897 regulatory region variant C/A;G;T snv
CUI: C0086543
Disease: Cataract
Cataract 		0.020 1.000 2 2012 2016