KCNQ1-AS1, KCNQ1 antisense RNA 1, 338653

N. diseases: 6; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147445322
rs147445322
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
A 0.800 GeneticVariation CLINVAR
dbSNP: rs199472821
rs199472821
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs1464992494
rs1464992494
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C0023976
Disease:
Long QT Syndrome
CG 0.700 CausalMutation CLINVAR
dbSNP: rs397508101
rs397508101
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C0003811
Disease:
Cardiac Arrhythmia
T 0.700 CausalMutation CLINVAR
dbSNP: rs397508103
rs397508103
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551509
Disease:
Jervell And Lange-Nielsen Syndrome 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs397508104
rs397508104
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
GC 0.700 CausalMutation CLINVAR
dbSNP: rs397508104
rs397508104
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C0023976
Disease:
Long QT Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs397508105
rs397508105
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C0023976
Disease:
Long QT Syndrome
CA 0.700 GeneticVariation CLINVAR
dbSNP: rs199472821
rs199472821
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942 1996
dbSNP: rs199472819
rs199472819
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942 1996
dbSNP: rs199473484
rs199473484
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942 1996
dbSNP: rs34516117
rs34516117
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942 1996
dbSNP: rs199472821
rs199472821
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
dbSNP: rs199472819
rs199472819
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
dbSNP: rs199473484
rs199473484
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
dbSNP: rs34516117
rs34516117
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
dbSNP: rs199472821
rs199472821
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. 9272155 1997
dbSNP: rs199472819
rs199472819
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. 9272155 1997
dbSNP: rs199473484
rs199473484
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. 9272155 1997
dbSNP: rs34516117
rs34516117
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. 9272155 1997
dbSNP: rs199472821
rs199472821
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006 1997
dbSNP: rs199472819
rs199472819
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006 1997
dbSNP: rs199473484
rs199473484
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006 1997
dbSNP: rs34516117
rs34516117
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006 1997
dbSNP: rs199472821
rs199472821
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054 1997