DisGeNET - a database of gene-disease associations

Long QT Syndrome 1, C4551647

Gene: KCNQ1 ×

Source: UNIPROT ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199472676

KCNQ1

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

KCNQ1

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:

rs267607197

KCNQ1

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:

rs104894255

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs120074188

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs120074189

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs120074196

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs140452381

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs143709408

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs145974930

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs150172393

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs179489

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472676

KCNQ1

0.700

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs199472703

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472704

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472706

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472711

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472712

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472713

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472715

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472717

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472718

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472722

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472723

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015

dbSNP:

rs199472724

KCNQ1

0.700

GeneticVariation

UNIPROT

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

25705178

2015