Disease: Jervell-Lange Nielsen Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508120
rs397508120
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		C 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
dbSNP: rs397508120
rs397508120
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease:
Jervell-Lange Nielsen Syndrome 		C 0.700 GeneticVariation CLINVAR Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962 2002