Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854855
rs137854855
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0024796
Disease:
Marfan Syndrome 		0.710 GeneticVariation BEFREE Heterozygous c.1642C >T (p.Arg548*) possibly contributed to MFS-related phenotypes, including ocular manifestations, mitral valve prolapse, and pectus excavatum, but was not cause of MFS. 22539340 2012
dbSNP: rs137854855
rs137854855
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0024796
Disease:
Marfan Syndrome 		A 0.710 CausalMutation CLINVAR
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: 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
dbSNP: rs11159091
rs11159091
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
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: 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: 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: rs137854856
rs137854856
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C3553785
Disease:
WEILL-MARCHESANI SYNDROME 3 		0.700 GeneticVariation UNIPROT LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 22539340 2012
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: 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: rs121918355
rs121918355
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: rs121918355
rs121918355
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C2751316
Disease:
Glaucoma 3, Primary Congenital, D 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918356
rs121918356
Entrez Id: 4053;101928352
Gene Symbol: LTBP2;LOC101928352
LTBP2;LOC101928352
CUI: C2751316
Disease:
Glaucoma 3, Primary Congenital, D 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137854856
rs137854856
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C4552002
Disease:
WEILL-MARCHESANI SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137854858
rs137854858
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs137854859
rs137854859
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0206368
Disease:
Exfoliation Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs137854860
rs137854860
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs137854863
rs137854863
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		C 0.700 GeneticVariation CLINVAR