Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		T 0.800 CausalMutation CLINVAR A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report. 28468609

2017
dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		T 0.800 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. 24502542

2014
dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		T 0.800 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome with supernumerary teeth. 18946009

2008
dbSNP: rs121908433
rs121908433
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal Syndrome, Type III 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121908435
rs121908435
TRPS1
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
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: rs28939069
rs28939069
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
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
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		T 0.800 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522

2015
dbSNP: rs28939070
rs28939070
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
CUI: C1837770
Disease: Sparse hair
Sparse hair 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
CUI: C0241703
Disease: High pitched voice
High pitched voice 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
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: rs1057518972
rs1057518972
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		T 0.700 CausalMutation CLINVAR Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. 25792522

2015
dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		T 0.700 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. 24502542

2014
dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		T 0.700 CausalMutation CLINVAR Tricho-rhino-phalangeal syndrome with supernumerary teeth. 18946009

2008
dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518972
rs1057518972
TRPS1
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908430
rs121908430
TRPS1
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121908431
rs121908431
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