Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10896015
rs10896015
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C0029410
Disease:
Osteoarthritis of hip 		G 0.700 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745 2019
dbSNP: rs58621819
rs58621819
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1269683
Disease:
Major Depressive Disorder 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901 2019
dbSNP: rs10896015
rs10896015
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C0029410
Disease:
Osteoarthritis of hip 		G 0.700 GeneticVariation GWASCAT Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069 2018
dbSNP: rs1554974135
rs1554974135
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C4540511
Disease:
GELEOPHYSIC DYSPLASIA 3 		0.700 GeneticVariation UNIPROT Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 27068007 2016
dbSNP: rs1188540819
rs1188540819
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C4540511
Disease:
GELEOPHYSIC DYSPLASIA 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909145
rs121909145
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1286042594
rs1286042594
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554971742
rs1554971742
Entrez Id: 4054;57410
Gene Symbol: LTBP3;SCYL1
LTBP3;SCYL1
CUI: C4540511
Disease:
GELEOPHYSIC DYSPLASIA 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554973844
rs1554973844
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs752375653
rs752375653
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs796052116
rs796052116
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs875989822
rs875989822
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs875989823
rs875989823
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs875989824
rs875989824
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878853262
rs878853262
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C1832594
Disease:
Verloes Bourguignon syndrome 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs1323910952
rs1323910952
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C0265287
Disease:
Acromicric Dysplasia 		0.010 GeneticVariation BEFREE Whole exome and Sanger sequencing revealed that the one with a novel heterozygous missense (c.2017G>T, p.Gly673Cys) mutation in LTBP3 had clinical features consistent with acromicric dysplasia (ACMICD). 30887145 2019
dbSNP: rs1554974135
rs1554974135
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
CUI: C0265287
Disease:
Acromicric Dysplasia 		0.010 GeneticVariation BEFREE A heterozygous missense mutation (exon 14: c.2087C>G: p.Ser696Cys) in latent transforming growth factor β (TGF-β)-binding protein-3 (LTBP3) was identified in a dominant AD family. 27068007 2016