rs12478318
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 3 | Possibly somewhat more insensitive to pain (see discussion) |
| (T;T) | 0 | common in clinvar |
| Make rs12478318(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 166277030 |
| Gene | LOC101929680, SCN9A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12478318 |
| dbSNP (classic) | rs12478318 |
| ClinGen | rs12478318 |
| ebi | rs12478318 |
| HLI | rs12478318 |
| Exac | rs12478318 |
| Gnomad | rs12478318 |
| Varsome | rs12478318 |
| LitVar | rs12478318 |
| Map | rs12478318 |
| PheGenI | rs12478318 |
| Biobank | rs12478318 |
| 1000 genomes | rs12478318 |
| hgdp | rs12478318 |
| ensembl | rs12478318 |
| geneview | rs12478318 |
| scholar | rs12478318 |
| rs12478318 | |
| pharmgkb | rs12478318 |
| gwascentral | rs12478318 |
| openSNP | rs12478318 |
| 23andMe | rs12478318 |
| SNPshot | rs12478318 |
| SNPdbe | rs12478318 |
| MSV3d | rs12478318 |
| GWAS Ctlg | rs12478318 |
| Max Magnitude | 3 |
aka c.2794A>C (p.Met932Leu or M932L); however, in older literature, it is called c.2796A>C (although still M932L) because that was how it was named in one of the earliest publications describing it [PMID 21939494
]
The variant allele for this SNP is apparently tightly linked to the variant allele for rs4369876. There are at least two publications in which the complex allele carrying both variants is reported to be associated with congenital insensitivity to pain (CIP) and/or lower post-operative pain following surgery.[PMID 21939494][PMID 23364568]
However, there is also a report of a patient carrying this complex allele who had a small fiber neuropathy and increased pain.[PMID 21698661] It is unclear how this can be reconciled with the reports of decreased pain associated with this complex allele.
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs12478318(G;G) |
| Alt | rs12478318(G;G) |
| Reference | Rs12478318(T;T) |
| Significance | Other |
| Disease | Small fiber neuropathy not specified Congenital Indifference to Pain Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA |
| Variation | info |
| Gene | LOC101929680 SCN9A |
| CLNDBN | Small fiber neuropathy not specified Congenital Indifference to Pain Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA |
| Reversed | 0 |
| HGVS | NC_000002.11:g.167133540T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023304.3, RCV000080038.8, RCV000399125.1, RCV000461431.1, |
