rs80356673
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80356673(C;T) |
Make rs80356673(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156860959 |
Gene | NTRK1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356673 |
dbSNP (classic) | rs80356673 |
ClinGen | rs80356673 |
ebi | rs80356673 |
HLI | rs80356673 |
Exac | rs80356673 |
Gnomad | rs80356673 |
Varsome | rs80356673 |
LitVar | rs80356673 |
Map | rs80356673 |
PheGenI | rs80356673 |
Biobank | rs80356673 |
1000 genomes | rs80356673 |
hgdp | rs80356673 |
ensembl | rs80356673 |
geneview | rs80356673 |
scholar | rs80356673 |
rs80356673 | |
pharmgkb | rs80356673 |
gwascentral | rs80356673 |
openSNP | rs80356673 |
23andMe | rs80356673 |
SNPshot | rs80356673 |
SNPdbe | rs80356673 |
MSV3d | rs80356673 |
GWAS Ctlg | rs80356673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356673(T;T) |
Alt | rs80356673(T;T) |
Reference | Rs80356673(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.156830751C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030667.24, RCV000031917.1, |
[PMID 10330344] Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.