Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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