Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1193512118
rs1193512118
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
CUI: C0342276
Disease:
Maturity onset diabetes mellitus in young
0.010 GeneticVariation BEFREE However, two other diabetic siblings had not inherited the mutant allele, implying that the P22R mutation was not the cause of MODY in this family. 11355020 2001