Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554596397
rs1554596397
TRPS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522

2015
dbSNP: rs1554596397
rs1554596397
TRPS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression. 24709795

2013
dbSNP: rs1554596397
rs1554596397
TRPS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. 14560312

2004
dbSNP: rs1554596397
rs1554596397
TRPS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. 11112658

2001
dbSNP: rs1554596397
rs1554596397
TRPS1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. 10615131

2000