rs6746030
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | Increased perception of pain |
| (A;G) | 1 | reported to influence perception of pain |
| (G;G) | 0 | Normal perception of pain |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 166242648 |
| Gene | LOC101929680, SCN9A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6746030 |
| dbSNP (classic) | rs6746030 |
| ClinGen | rs6746030 |
| ebi | rs6746030 |
| HLI | rs6746030 |
| Exac | rs6746030 |
| Gnomad | rs6746030 |
| Varsome | rs6746030 |
| LitVar | rs6746030 |
| Map | rs6746030 |
| PheGenI | rs6746030 |
| Biobank | rs6746030 |
| 1000 genomes | rs6746030 |
| hgdp | rs6746030 |
| ensembl | rs6746030 |
| geneview | rs6746030 |
| scholar | rs6746030 |
| rs6746030 | |
| pharmgkb | rs6746030 |
| gwascentral | rs6746030 |
| openSNP | rs6746030 |
| 23andMe | rs6746030 |
| SNPshot | rs6746030 |
| SNPdbe | rs6746030 |
| MSV3d | rs6746030 |
| GWAS Ctlg | rs6746030 |
| GMAF | 0.1088 |
| Max Magnitude | 1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs6746030 is a SNP in the sodium channel Nav1.7 SCN9A gene.
In five cohorts tested, totaling 1,277 individuals, the rarer rs6746030(A) allele was associated with increased pain (p=0.0001).[PMID 20212137
]
[PMID 20033988] A sodium channel gene SCN9A polymorphism that increases nociceptor excitability
[PMID 22473870] Contribution of genetic variants to pain susceptibility in Parkinson disease
[PMID 21031562] Role of the Nav1.7 R1150W amino acid change in susceptibility to symptomatic knee osteoarthritis and multiple regional pain
| ClinVar | |
|---|---|
| Risk | Rs6746030(G;G) |
| Alt | Rs6746030(G;G) |
| Reference | Rs6746030(A;A) |
| Significance | Non-pathogenic |
| Disease | Primary erythromelalgia Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA |
| Variation | info |
| Gene | LOC101929680 SCN9A |
| CLNDBN | Primary erythromelalgia Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA |
| Reversed | 0 |
| HGVS | NC_000002.11:g.167099158A\x3d |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020514.1, RCV000239769.2, |
[PMID 15302875] Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia.
[PMID 23006801] The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility
[PMID 23102778] Polymorphism in the SCN9A voltage-gated sodium channel gene associated with interstitial cystitis/bladder pain syndrome.
[PMID 23129781] Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
[PMID 26752484] Genotypic Analysis of SCN9A for Prediction of Postoperative Pain in Female Patients Undergoing Gynecological Laparoscopic Surgery.
[PMID 29172294] Association of Voltage-Gated Sodium Channel Genetic Polymorphisms with Oxaliplatin-Induced Chronic Peripheral Neuropathy in South Indian Cancer Patients
