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: 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