rs757139012, SIM1

N. diseases: 3
Disease: Obesity ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Obesity
CUI: C0028754
Disease: Obesity
0.010 GeneticVariation BEFREE Three mutations showed strong loss-of-function effects (p.T46R, p.H323Y, and p.T714A) and were associated with high intra-family risk for obesity, while the variants with mild or no effects on SIM1 activity were not associated with obesity within families. 23778136 2013