rs80356676
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (GCC;GCC) | 0 | common in clinvar |
| Make rs80356676(-;T) |
| Make rs80356676(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156879176 |
| Gene | NTRK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356676 |
| dbSNP (classic) | rs80356676 |
| ClinGen | rs80356676 |
| ebi | rs80356676 |
| HLI | rs80356676 |
| Exac | rs80356676 |
| Gnomad | rs80356676 |
| Varsome | rs80356676 |
| LitVar | rs80356676 |
| Map | rs80356676 |
| PheGenI | rs80356676 |
| Biobank | rs80356676 |
| 1000 genomes | rs80356676 |
| hgdp | rs80356676 |
| ensembl | rs80356676 |
| geneview | rs80356676 |
| scholar | rs80356676 |
| rs80356676 | |
| pharmgkb | rs80356676 |
| gwascentral | rs80356676 |
| openSNP | rs80356676 |
| 23andMe | rs80356676 |
| SNPshot | rs80356676 |
| SNPdbe | rs80356676 |
| MSV3d | rs80356676 |
| GWAS Ctlg | rs80356676 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356676(T;T) |
| Alt | rs80356676(T;T) |
| Reference | Rs80356676(-;-) |
| Significance | Pathogenic |
| Disease | Hereditary insensitivity to pain with anhidrosis not provided |
| Variation | info |
| Gene | NTRK1 |
| CLNDBN | Hereditary insensitivity to pain with anhidrosis not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156848968_156848969insT |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020469.1, RCV000479042.1, |
[PMID 10861667] Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
[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.
