DisGeNET - a database of gene-disease associations

SCN10A, sodium voltage-gated channel alpha subunit 10, 6336

N. diseases: 147; N. variants: 34

Source: ALL

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs138404783

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C3809893
Disease:

EPISODIC PAIN SYNDROME, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs142173735

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C3809893
Disease:

EPISODIC PAIN SYNDROME, FAMILIAL, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs142173735

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C3809893
Disease:

EPISODIC PAIN SYNDROME, FAMILIAL, 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1559414131

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs10428132

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.830

GeneticVariation

BEFREE

<b>Introduction:</b> A previous genome-wide association study found three genetic loci, rs9388451, rs10428132, and rs11708996, to increase the risk of Brugada Syndrome (BrS).

30042696

2018

dbSNP:

rs6795970

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C0429097
Disease:

QRS complex feature

0.700

GeneticVariation

GWASCAT

52 Genetic Loci Influencing Myocardial Mass.

27659466

2016

dbSNP:

rs6801957

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C0429097
Disease:

QRS complex feature

0.700

GeneticVariation

GWASCAT

52 Genetic Loci Influencing Myocardial Mass.

27659466

2016

dbSNP:

rs57326399

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.010

GeneticVariation

BEFREE

As for the 16 polymorphisms, 1 was a novel polymorphism (c.4144-84G>A) located in intron 24, and the rest were reported previously including one polymorphism (c.2884A>G [I962V]) which showed a statistically significant difference in allele frequency (p = 0.044) between SUNDS and the control group.

27272739

2017

dbSNP:

rs6790396

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C0004238
Disease:

Atrial Fibrillation

0.700

GeneticVariation

GWASCAT

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

30061737

2018

dbSNP:

rs10428132

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.830

GeneticVariation

BEFREE

Both rs10428132 and rs9388451 were significantly associated with BrS (P=2.7×10(-14); odds ratio, 3.0; P=9.2×10(-4); odds ratio, 1.7, respectively).

26729854

2016

dbSNP:

rs10428168

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs11129801

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs12638572

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs6599240

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs6599257

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs6795970

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs6798015

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs7428167

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs7430439

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs7641844

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs9874633

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.700

GeneticVariation

GWASDB

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

23872634

2013

dbSNP:

rs6801957

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C0018803
Disease:

Heart Function Tests

0.800

GeneticVariation

GWASDB

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

21076409

2010

dbSNP:

rs6801957

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C0018803
Disease:

Heart Function Tests

0.800

GeneticVariation

GWASCAT

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

21076409

2010

dbSNP:

rs138832868

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.010

GeneticVariation

BEFREE

Dermal fibroblasts obtained from a BrS patient suffering from SCD harbouring the SCN10A double variants (c.3803G>A and c.3749G>A) and three independent healthy control subjects were reprogrammed to hiPSCs.

31106349

2019

dbSNP:

rs774893568

Entrez Id:	6336
Gene Symbol:	SCN10A

SCN10A

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.010

GeneticVariation

BEFREE

31106349

2019