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.