rs199472947, KCNH2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Short Qt Syndrome
CUI: C2348199
Disease: Short Qt Syndrome
0.020 GeneticVariation BEFREE Moreover, QTc of SQT patient and action potential durations of SQT iPSC-CMs were both normalized by quinidine, indicating that quinidine is beneficial to KCNH2 T618I of SQT. 30582453 2019
Short Qt Syndrome
CUI: C2348199
Disease: Short Qt Syndrome
0.020 GeneticVariation BEFREE The altered function of T618I-HERG channels suggests that this mutation in the KCNH2 gene is responsible for the SQTS phenotype in this family. 21130771 2011