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: 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: rs751565386
rs751565386
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