rs137853336, HNF4A

N. diseases: 5
Disease: Maturity onset diabetes mellitus in young ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Maturity onset diabetes mellitus in young
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
0.010 GeneticVariation BEFREE We redefine p.R114W</span> as a pathogenic mutation that causes a distinct clinical subtype of HNF4A MODY with reduced penetrance, reduced sensitivity to sulfonylurea treatment, and no effect on birth weight. 27486234 2016