Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908850
rs121908850
Entrez Id: 84920
Gene Symbol: ALG10
ALG10
CUI: C3150943
Disease:
Long Qt Syndrome 2 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs121908850
rs121908850
Entrez Id: 84920
Gene Symbol: ALG10
ALG10
CUI: C2732979
Disease:
Acquired long QT syndrome 		0.010 GeneticVariation BEFREE Examination of the human KCR1 sequence in patients with drug-induced cardiac repolarization defects revealed a sequence variation (the substitution of isoleucine 447 by valine, I447V) that occurs at a reduced frequency (1.1%) relative to a matched control population (7.0%), suggesting that I447V may be an allele for reduced aLQTS susceptibility. 15280551 2004