Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2293889
rs2293889
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1057518972
rs1057518972
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		T 0.800 CausalMutation CLINVAR A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report. 28468609 2017
dbSNP: rs121908435
rs121908435
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		T 0.800 CausalMutation CLINVAR Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization. 27826100 2017
dbSNP: rs2293889
rs2293889
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs28939069
rs28939069
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.800 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs28939070
rs28939070
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.800 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1057518972
rs1057518972
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		T 0.800 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. 24502542 2014
dbSNP: rs2293889
rs2293889
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs2293889
rs2293889
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs800586
rs800586
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASCAT Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. 22491018 2013
dbSNP: rs800586
rs800586
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASDB Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. 22491018 2013
dbSNP: rs2293889
rs2293889
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs2293889
rs2293889
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs2737229
rs2737229
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		C 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs2737229
rs2737229
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		C 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1057518972
rs1057518972
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		T 0.800 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome with supernumerary teeth. 18946009 2008
dbSNP: rs28939069
rs28939069
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		0.800 GeneticVariation UNIPROT Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. 14560312 2004
dbSNP: rs28939070
rs28939070
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		0.800 GeneticVariation UNIPROT Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. 14560312 2004
dbSNP: rs121908433
rs121908433
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		0.800 GeneticVariation UNIPROT Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. 11807863 2002
dbSNP: rs121908435
rs121908435
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		0.800 GeneticVariation UNIPROT Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. 11807863 2002
dbSNP: rs121908433
rs121908433
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		0.800 GeneticVariation UNIPROT Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 11112658 2001
dbSNP: rs121908435
rs121908435
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		0.800 GeneticVariation UNIPROT Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 11112658 2001
dbSNP: rs1057518972
rs1057518972
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		0.800 GeneticVariation UNIPROT
dbSNP: rs121908433
rs121908433
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1860823
Disease:
Trichorhinophalangeal Syndrome, Type III 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28939070
rs28939070
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.800 GeneticVariation CLINVAR