rs121964866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121964866(C;C) |
Make rs121964866(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156876496 |
Gene | NTRK1 |
is a | snp |
is | mentioned by |
dbSNP | rs121964866 |
dbSNP (classic) | rs121964866 |
ClinGen | rs121964866 |
ebi | rs121964866 |
HLI | rs121964866 |
Exac | rs121964866 |
Gnomad | rs121964866 |
Varsome | rs121964866 |
LitVar | rs121964866 |
Map | rs121964866 |
PheGenI | rs121964866 |
Biobank | rs121964866 |
1000 genomes | rs121964866 |
hgdp | rs121964866 |
ensembl | rs121964866 |
geneview | rs121964866 |
scholar | rs121964866 |
rs121964866 | |
pharmgkb | rs121964866 |
gwascentral | rs121964866 |
openSNP | rs121964866 |
23andMe | rs121964866 |
SNPshot | rs121964866 |
SNPdbe | rs121964866 |
MSV3d | rs121964866 |
GWAS Ctlg | rs121964866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964866(A;A) rs121964866(C;C) |
Alt | rs121964866(A;A) rs121964866(C;C) |
Reference | Rs121964866(G;G) |
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.156846288G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013096.17, |