Source: BEFREE

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: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.020 1.000 2 2012 2018
dbSNP: rs156697
rs156697
GSTO2
0.672 0.560 10 104279427 missense variant A/G;T snv 0.35
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.020 1.000 2 2014 2016
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.020 1.000 2 2015 2015
dbSNP: rs104894201
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2019 2019
dbSNP: rs1052559
rs1052559
ERCC2 ; KLC3
1.000 0.040 19 45351661 stop gained T/A;G snv
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2017 2017
dbSNP: rs1190613858
rs1190613858
LMNA
0.925 0.120 1 156139085 synonymous variant C/T snv 4.0E-06
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2012 2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2015 2015
dbSNP: rs1346044
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2010 2010
dbSNP: rs3754334
rs3754334
EPHA2
0.925 0.040 1 16125272 synonymous variant G/A snv 0.28 0.24
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2013 2013
dbSNP: rs4925
rs4925
GSTO1
0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2014 2014
dbSNP: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2012 2012
dbSNP: rs7278468
rs7278468
CRYAA ; LOC107987300
0.882 0.280 21 43168647 upstream gene variant T/A;G snv
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2016 2016
dbSNP: rs759412116
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2015 2015
dbSNP: rs79121622
rs79121622
HSF4
0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		0.010 1.000 1 2014 2014