B3GLCT, beta 3-glucosyltransferase, 145173

N. diseases: 157; N. variants: 11
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: rs80338851
rs80338851 		0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.710 1.000 9 2006 2019
dbSNP: rs1041073
rs1041073 		13 31317609 missense variant G/A snv 0.75 0.66
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1060709
rs1060709 		13 31329697 3 prime UTR variant G/A;T snv 1.2E-05; 0.64
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs9530139
rs9530139 		1.000 0.040 13 31273187 intron variant C/T snv 0.20
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs9544399
rs9544399 		13 31311770 intron variant A/G snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9564692
rs9564692 		0.851 0.040 13 31247103 splice region variant C/T snv 0.40 0.36
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
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
dbSNP: rs9564692
rs9564692 		0.851 0.040 13 31247103 splice region variant C/T snv 0.40 0.36
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs9564692
rs9564692 		0.851 0.040 13 31247103 splice region variant C/T snv 0.40 0.36
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267606675
rs267606675 		1.000 0.160 13 31317679 missense variant G/A snv
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs767361165
rs767361165 		1.000 0.160 13 31247967 splice donor variant G/A snv 8.0E-06 7.0E-06
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs80338850
rs80338850 		1.000 0.160 13 31247104 splice region variant G/A snv 1.2E-05 2.8E-05
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs80338852
rs80338852 		0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06
CUI: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs80338851
rs80338851 		0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04
CUI: C1456687
Disease: Polio and Post-Polio Syndrome
Polio and Post-Polio Syndrome 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs80338851
rs80338851 		0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80338852
rs80338852 		0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs80338852
rs80338852 		0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2010 2010