rs142173735
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs142173735(A;A) |
| Make rs142173735(A;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 38712340 |
| Gene | SCN10A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142173735 |
| dbSNP (classic) | rs142173735 |
| ClinGen | rs142173735 |
| ebi | rs142173735 |
| HLI | rs142173735 |
| Exac | rs142173735 |
| Gnomad | rs142173735 |
| Varsome | rs142173735 |
| LitVar | rs142173735 |
| Map | rs142173735 |
| PheGenI | rs142173735 |
| Biobank | rs142173735 |
| 1000 genomes | rs142173735 |
| hgdp | rs142173735 |
| ensembl | rs142173735 |
| geneview | rs142173735 |
| scholar | rs142173735 |
| rs142173735 | |
| pharmgkb | rs142173735 |
| gwascentral | rs142173735 |
| openSNP | rs142173735 |
| 23andMe | rs142173735 |
| SNPshot | rs142173735 |
| SNPdbe | rs142173735 |
| MSV3d | rs142173735 |
| GWAS Ctlg | rs142173735 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142173735(A;A) rs142173735(T;T) |
| Alt | rs142173735(A;A) rs142173735(T;T) |
| Reference | Rs142173735(C;C) |
| Significance | Pathogenic |
| Disease | Episodic pain syndrome |
| Variation | info |
| Gene | SCN10A |
| CLNDBN | Episodic pain syndrome, familial, 2 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.38753831C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000074498.3, |
