B3GLCT, beta 3-glucosyltransferase, 145173

N. diseases: 157; N. variants: 11
Disease: Age related macular degeneration ×
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: rs9542236
rs9542236 		1.000 0.040 13 31245188 intron variant T/C snv 0.34
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.820 0.667 3 2013 2019
dbSNP: rs9564692
rs9564692 		0.851 0.040 13 31247103 splice region variant C/T snv 0.40 0.36
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016