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: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		A 0.700 CausalMutation CLINVAR