Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472804
rs199472804
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.810 GeneticVariation BEFREE Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B). 31415974 2019
dbSNP: rs1800171
rs1800171
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.710 GeneticVariation BEFREE We previously reported that a synonymous mutation, c.1032G>A, p.A344Aspl, in KCNQ1 is most commonly identified in genotyped patients with LQT1 in Japan and the aberrant splicing was analyzed in the lymphocytes isolated from patients' blood samples. 29857160 2018
dbSNP: rs1554920808
rs1554920808
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
G 0.700 GeneticVariation CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053 2018
dbSNP: rs12720459
rs12720459
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.850 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs120074191
rs120074191
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs120074193
rs120074193
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199472755
rs199472755
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs104894252
rs104894252
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs120074177
rs120074177
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs120074182
rs120074182
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs120074183
rs120074183
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs120074184
rs120074184
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs120074187
rs120074187
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs147445322
rs147445322
Entrez Id: 3784;338653
Gene Symbol: KCNQ1;KCNQ1-AS1
KCNQ1;KCNQ1-AS1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs17215500
rs17215500
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs17221854
rs17221854
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs193922365
rs193922365
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199472719
rs199472719
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199472737
rs199472737
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199472759
rs199472759
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199473442
rs199473442
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199473443
rs199473443
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs74462309
rs74462309
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199472676
rs199472676
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs199473398
rs199473398
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017