rs80356677
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356677(G;T) |
| Make rs80356677(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156879336 |
| Gene | NTRK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356677 |
| dbSNP (classic) | rs80356677 |
| ClinGen | rs80356677 |
| ebi | rs80356677 |
| HLI | rs80356677 |
| Exac | rs80356677 |
| Gnomad | rs80356677 |
| Varsome | rs80356677 |
| LitVar | rs80356677 |
| Map | rs80356677 |
| PheGenI | rs80356677 |
| Biobank | rs80356677 |
| 1000 genomes | rs80356677 |
| hgdp | rs80356677 |
| ensembl | rs80356677 |
| geneview | rs80356677 |
| scholar | rs80356677 |
| rs80356677 | |
| pharmgkb | rs80356677 |
| gwascentral | rs80356677 |
| openSNP | rs80356677 |
| 23andMe | rs80356677 |
| SNPshot | rs80356677 |
| SNPdbe | rs80356677 |
| MSV3d | rs80356677 |
| GWAS Ctlg | rs80356677 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356677(T;T) |
| Alt | rs80356677(T;T) |
| Reference | Rs80356677(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary insensitivity to pain with anhidrosis |
| Variation | info |
| Gene | NTRK1 |
| CLNDBN | Hereditary insensitivity to pain with anhidrosis |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156849128G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000020470.1, |
[PMID 11668614] Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
