rs6795970, SCN10A

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Electrocardiogram: P-R interval
CUI: C0429087
Disease: Electrocardiogram: P-R interval
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
Electrocardiogram: P-R interval
CUI: C0429087
Disease: Electrocardiogram: P-R interval
0.800 GeneticVariation GWASDB Genome-wide association studies of the PR interval in African Americans. 21347284 2011
Electrocardiogram: P-R interval
CUI: C0429087
Disease: Electrocardiogram: P-R interval
0.800 GeneticVariation GWASCAT Several common variants modulate heart rate, PR interval and QRS duration. 20062063 2010
Electrocardiogram: P-R interval
CUI: C0429087
Disease: Electrocardiogram: P-R interval
0.800 GeneticVariation GWASCAT Replication testing among 6,243 Indian Asians and 5,370 Europeans confirmed that rs6795970 (G>A) is associated with prolonged cardiac conduction (longer P-wave duration, PR interval and QRS duration, P = 10(-5) to 10(-20)). 20062061 2010
QRS complex feature
CUI: C0429097
Disease: QRS complex feature
0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
Brugada Syndrome (disorder)
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
Electrocardiography
CUI: C1623258
Disease: Electrocardiography
0.700 GeneticVariation GWASCAT Genetic variation in SCN10A influences cardiac conduction. 20062061 2010
QRS complex feature
CUI: C0429097
Disease: QRS complex feature
0.700 GeneticVariation GWASCAT Several common variants modulate heart rate, PR interval and QRS duration. 20062063 2010
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.020 GeneticVariation BEFREE There was a significant difference in the allele distribution (p = 7.86 × 10<sup>-5</sup>) and genotype distribution (p = 1.42 × 10<sup>-5</sup>) of rs6795970 between the AF recurrence and no recurrence groups. 28281580 2017
Heart Block
CUI: C0018794
Disease: Heart Block
0.020 GeneticVariation BEFREE In addition, the A allele remained significant after adjusting for other covariates in a multivariate model (odds ratio = 6.30 [95% confidence interval: 2.24 to 19.09], P = 0.0005).The rs6795970 in the SCN10A gene, which is reported to carry a high risk of heart block, might be associated with cardiac conduction abnormalities in HCM patients. 26104176 2015
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.020 GeneticVariation BEFREE The common variant rs6795970 in SCN10A is associated with the PR interval duration among healthy patients and those with AF. 24072447 2014
Heart Block
CUI: C0018794
Disease: Heart Block
0.020 GeneticVariation BEFREE We also find that rs6795970 is associated with a higher risk of heart block (P < 0.05) and a lower risk of ventricular fibrillation (P = 0.01). 20062061 2010
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
0.010 GeneticVariation BEFREE This is the first report linking the rs6795970 mutation with postoperative abdominal pain in humans. 31642403 2019
Lower abdominal pain
CUI: C0232495
Disease: Lower abdominal pain
0.010 GeneticVariation BEFREE This information could be used to develop new predictive tools to optimize patient pain experience and analgesic use in the perioperative setting.<b>NEW & NOTEWORTHY</b> We present evidence that in a cohort of patients undergoing sigmoid colectomy, those homozygous for the Na<sub>V</sub>1.8 polymorphism (rs6795970) reported significantly lower abdominal pain scores than individuals with the homozygous wild-type or heterozygous genotype. 31642403 2019
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE The allelic frequency of only one non-synonymous SNP (rs6795970 [<i>SCN10A</i>]) approached significance in hypoalgesic IBD patients when compared to other IBD patients (<i>p</i> = 0.096, Fisher's exact test). 30538988 2018
Mechanical pain
CUI: C0234252
Disease: Mechanical pain
0.010 GeneticVariation BEFREE We demonstrated an association between rs6795970 (G > A; p.Ala1073Val) and higher thresholds for mechanical pain in a discovery cohort (496 subjects) and confirmed it in a larger replication cohort (1005 female subjects). 27590072 2016
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.010 GeneticVariation BEFREE Two SCN10A polymorphisms in high linkage disequilibrium (r(2) = 0.95) showed significant association with MSFC performance in patients with MS (rs6795970: p = 6.2 × 10(-4); rs6801957: p = 0.0025). 26740675 2016
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE In addition, the A allele remained significant after adjusting for other covariates in a multivariate model (odds ratio = 6.30 [95% confidence interval: 2.24 to 19.09], P = 0.0005).The rs6795970 in the SCN10A gene, which is reported to carry a high risk of heart block, might be associated with cardiac conduction abnormalities in HCM patients. 26104176 2015
Ventricular Fibrillation
CUI: C0042510
Disease: Ventricular Fibrillation
0.010 GeneticVariation BEFREE We also find that rs6795970 is associated with a higher risk of heart block (P < 0.05) and a lower risk of ventricular fibrillation (P = 0.01). 20062061 2010