Disease: Trichorhinophalangeal dysplasia type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs28939070
rs28939070
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs1057518972
rs1057518972
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.700 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: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.700 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: rs751565386
rs751565386
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 28170084 2017
dbSNP: rs886040971
rs886040971
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		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: rs1057518972
rs1057518972
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs121908431
rs121908431
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs121908432
rs121908432
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs121908435
rs121908435
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs121908435
rs121908435
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		G 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs121908436
rs121908436
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554592981
rs1554592981
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		TG 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554592995
rs1554592995
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554593099
rs1554593099
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554595857
rs1554595857
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		T 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554595930
rs1554595930
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554596193
rs1554596193
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		C 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554596300
rs1554596300
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		TG 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554596328
rs1554596328
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		TA 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554596391
rs1554596391
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015
dbSNP: rs1554596393
rs1554596393
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0432233
Disease:
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522 2015