Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566634475
rs1566634475
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C2751316
Disease:
Glaucoma 3, Primary Congenital, D 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1566635134
rs1566635134
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C2751316
Disease:
Glaucoma 3, Primary Congenital, D 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1566636728
rs1566636728
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C3538951
Disease:
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1566660365
rs1566660365
Entrez Id: 4053;101928352
Gene Symbol: LTBP2;LOC101928352
LTBP2;LOC101928352
CUI: C2751316
Disease:
Glaucoma 3, Primary Congenital, D 		G 0.700 CausalMutation CLINVAR
dbSNP: rs2043948
rs2043948
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.700 GeneticVariation GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
dbSNP: rs2286412
rs2286412
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0027051
Disease:
Myocardial Infarction 		0.700 GeneticVariation GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
dbSNP: rs3742793
rs3742793
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C1533041
Disease:
Primary congenital glaucoma 		0.010 GeneticVariation BEFREE We observed one intronic single nucleotide polymorphism (rs3742793) between exons 6 and 7 in the LTBP2 gene in 18 patients with PCG. 23378721 2013
dbSNP: rs387907174
rs387907174
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C3538951
Disease:
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907175
rs387907175
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C3538951
Disease:
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61738025
rs61738025
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C1533041
Disease:
Primary congenital glaucoma 		0.010 GeneticVariation BEFREE In addition, four synonymous SNPs were detected in the patients with PCG (rs61738025, rs862031, rs199805158, and rs12586758). 27293371 2016
dbSNP: rs61980882
rs61980882
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs699371
rs699371
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs699371
rs699371
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
dbSNP: rs73296215
rs73296215
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0040420
Disease:
Tonometry 		0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
dbSNP: rs74384554
rs74384554
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0040420
Disease:
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
dbSNP: rs766435538
rs766435538
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C1862103
Disease:
Brachydactyly type C 		0.010 GeneticVariation BEFREE To search for potential phenotypic modifiers regulating secretion of GDF5, we compared cells overexpressing wild type (Wt) GDF5 and GDF5 with a novel mutation in the prodomain identified in a large Pakistani family with Brachydactyly type C and mild Grebe type chondrodyslplasia (c527T>C; p.Leu176Pro). 23812741 2013
dbSNP: rs777661862
rs777661862
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C3538951
Disease:
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs862034
rs862034
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs862034
rs862034
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0489786
Disease:
Height 		A 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs862034
rs862034
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
dbSNP: rs862041
rs862041
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs862045
rs862045
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs862048
rs862048
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019