rs6339
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs6339(G;T) |
| Make rs6339(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156879154 |
| Gene | NTRK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6339 |
| dbSNP (classic) | rs6339 |
| ClinGen | rs6339 |
| ebi | rs6339 |
| HLI | rs6339 |
| Exac | rs6339 |
| Gnomad | rs6339 |
| Varsome | rs6339 |
| LitVar | rs6339 |
| Map | rs6339 |
| PheGenI | rs6339 |
| Biobank | rs6339 |
| 1000 genomes | rs6339 |
| hgdp | rs6339 |
| ensembl | rs6339 |
| geneview | rs6339 |
| scholar | rs6339 |
| rs6339 | |
| pharmgkb | rs6339 |
| gwascentral | rs6339 |
| openSNP | rs6339 |
| 23andMe | rs6339 |
| SNPshot | rs6339 |
| SNPdbe | rs6339 |
| MSV3d | rs6339 |
| GWAS Ctlg | rs6339 |
| GMAF | 0.01882 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs6339(T;T) |
| Alt | rs6339(T;T) |
| Reference | Rs6339(G;G) |
| Significance | Other |
| Disease | Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis not specified |
| Variation | info |
| Gene | NTRK1 |
| CLNDBN | Familial medullary thyroid carcinoma Hereditary insensitivity to pain with anhidrosis not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156848946G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013101.17, RCV000030667.24, RCV000031916.2, RCV000127263.1, |
[PMID 17212826
] TAMGeS: a Three-array Method for Genotyping of SNPs by a dual-colour approach.
[PMID 18270328] Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
[PMID 10330344] Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
[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 11159935] Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
