rs397514669, UBIAD1

N. diseases: 3
Disease: Renal carnitine transport defect ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
0.010 GeneticVariation BEFREE We report a novel c.864G>A UBIAD1 mutation altering glycine 177 to glutamic acid (p.G177E) in six SCD families, including four families from Finland who share a likely founder mutation. 23169578 2013