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 		A 0.710 CausalMutation CLINVAR
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
dbSNP: rs137854864
rs137854864
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0206368
Disease:
Exfoliation Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs137854895
rs137854895
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C2751316
Disease:
Glaucoma 3, Primary Congenital, D 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137854895
rs137854895
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C2981140
Disease:
Glaucoma of childhood 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1566628109
rs1566628109
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C3538951
Disease:
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		CG 0.700 CausalMutation CLINVAR
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: 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: 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: 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: rs121918355
rs121918355
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
CUI: C0149893
Disease:
Secondary glaucoma 		0.010 GeneticVariation BEFREE The genetically homogeneous group of p.R299X homozygotes showed variable phenotypes (presumably also underlying pathogenetic mechanisms), wherein PCG proper with primary dysgenesis of the trabecular meshwork, and Marfan syndrome-like zonular disease with ectopia lentis and later onset secondary glaucoma are two extremes. 21081970 2011