rs121908908
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | carrier of one allele for insensitivity to pain |
| (G;G) | 4 | Congenital insensitivity to pain |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 166286562 |
| Gene | LOC101929680, SCN9A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908908 |
| dbSNP (classic) | rs121908908 |
| ClinGen | rs121908908 |
| ebi | rs121908908 |
| HLI | rs121908908 |
| Exac | rs121908908 |
| Gnomad | rs121908908 |
| Varsome | rs121908908 |
| LitVar | rs121908908 |
| Map | rs121908908 |
| PheGenI | rs121908908 |
| Biobank | rs121908908 |
| 1000 genomes | rs121908908 |
| hgdp | rs121908908 |
| ensembl | rs121908908 |
| geneview | rs121908908 |
| scholar | rs121908908 |
| rs121908908 | |
| pharmgkb | rs121908908 |
| gwascentral | rs121908908 |
| openSNP | rs121908908 |
| 23andMe | rs121908908 |
| SNPshot | rs121908908 |
| SNPdbe | rs121908908 |
| MSV3d | rs121908908 |
| GWAS Ctlg | rs121908908 |
| Max Magnitude | 4 |
rs121908908, also known as c.1376C>G, p.Ser459Ter and S459X, is a rare mutation in the SCN9A gene on chromosome 2.
Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.
| ClinVar | |
|---|---|
| Risk | Rs121908908(G;G) rs121908908(T;T) |
| Alt | Rs121908908(G;G) rs121908908(T;T) |
| Reference | Rs121908908(C;C) |
| Significance | Pathogenic |
| Disease | Indifference to pain |
| Variation | info |
| Gene | LOC101929680 SCN9A |
| CLNDBN | Indifference to pain, congenital, autosomal recessive |
| Reversed | 1 |
| HGVS | NC_000002.11:g.167143072G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006725.3, |
