Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520598
rs1057520598
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0023976
Disease:
Long QT Syndrome
C 0.700 GeneticVariation CLINVAR The genetic basis of long QT and short QT syndromes: a mutation update. 19862833 2009
dbSNP: rs1057520598
rs1057520598
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0023976
Disease:
Long QT Syndrome
C 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000