rs9333649, KCNH2

N. diseases: 3
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
0.010 GeneticVariation BEFREE The syndrome was associated with a novel KCNH2 missense mutation, G572R, causing the substitution of a glycine residue at position 572, at the end of the S5 transmembrane segment of the HERG K(+)-channel, with an arginine residue. 10735633 2000