Disease: Trichorhinophalangeal Syndrome, Type III ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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