Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
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: rs1057518972
rs1057518972
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
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: rs1057518972
rs1057518972
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		T 0.800 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome with supernumerary teeth. 18946009

2008
dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.800 GeneticVariation UNIPROT

dbSNP: rs121908433
rs121908433
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
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
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.800 GeneticVariation UNIPROT Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 11112658

2001
dbSNP: rs121908433
rs121908433
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121908435
rs121908435
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
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: rs121908435
rs121908435
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
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
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		0.800 GeneticVariation UNIPROT Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 11112658

2001
dbSNP: rs121908436
rs121908436
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554593085
rs1554593085
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554596063
rs1554596063
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1563623987
rs1563623987
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1563637033
rs1563637033
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1563638577
rs1563638577
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		GGCAA 0.700 CausalMutation CLINVAR

dbSNP: rs28939069
rs28939069
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28939070
rs28939070
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs368166434
rs368166434
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR

dbSNP: rs751565386
rs751565386
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 28170084

2017
dbSNP: rs751565386
rs751565386
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522

2015
dbSNP: rs886040971
rs886040971
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. 28050602

2017
dbSNP: rs886040971
rs886040971
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522

2015
dbSNP: rs886040971
rs886040971
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. 23451857

2013
dbSNP: rs886040971
rs886040971
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		A 0.700 CausalMutation CLINVAR Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. 22964620

2012