rs80356675
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356675(-;-) |
| Make rs80356675(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156876427 |
| Gene | NTRK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356675 |
| dbSNP (classic) | rs80356675 |
| ClinGen | rs80356675 |
| ebi | rs80356675 |
| HLI | rs80356675 |
| Exac | rs80356675 |
| Gnomad | rs80356675 |
| Varsome | rs80356675 |
| LitVar | rs80356675 |
| Map | rs80356675 |
| PheGenI | rs80356675 |
| Biobank | rs80356675 |
| 1000 genomes | rs80356675 |
| hgdp | rs80356675 |
| ensembl | rs80356675 |
| geneview | rs80356675 |
| scholar | rs80356675 |
| rs80356675 | |
| pharmgkb | rs80356675 |
| gwascentral | rs80356675 |
| openSNP | rs80356675 |
| 23andMe | rs80356675 |
| SNPshot | rs80356675 |
| SNPdbe | rs80356675 |
| MSV3d | rs80356675 |
| GWAS Ctlg | rs80356675 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356675(-;-) |
| Alt | rs80356675(-;-) |
| Reference | Rs80356675(C;C) |
| 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.156846219delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000020468.2, |
[PMID 11748840] Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
