Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472918
rs199472918
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 GeneticVariation BEFREE Four presumable founder mutations (KCNQ1 G589D and IVS7-2A > G, HERG R176W and L552S) together account for as much as 73% of all established Finnish LQTS cases. 15176425

2004
dbSNP: rs199472918
rs199472918
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 GeneticVariation BEFREE A novel missense mutation (L552S) in the HERG channel, present in the homozygous state in the affected siblings and in the heterozygous state in their parents, as well as in 38 additional subjects from six LQTS families, was identified. 10841244

2000