Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
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: rs886040971
rs886040971
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522

2015
dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		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: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		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
dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		A 0.700 CausalMutation CLINVAR Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 11112658

2001