Disease: Bilateral cataracts (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs79121622
HSF4
0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05 5
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 8
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs2725338
WRN
0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02 7
rs5030732
UCHL1 ; UCHL1-AS1
0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 10
rs11574311
WRN
0.776 0.160 8 31119144 intron variant T/C snv 0.16 8
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs4733220
WRN
0.807 0.120 8 31043374 intron variant A/G snv 0.50 6
rs2725383
WRN
0.807 0.120 8 31075099 intron variant C/G snv 0.76 6