WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1339616347
rs1339616347
0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.700 0
dbSNP: rs11574311
rs11574311
0.776 0.160 8 31119144 intron variant T/C snv 0.16
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338
0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2725383
rs2725383
0.807 0.120 8 31075099 intron variant C/G snv 0.76
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4733220
rs4733220
0.807 0.120 8 31043374 intron variant A/G snv 0.50
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2013 2013