rs797045059
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797045059(A;C) |
Make rs797045059(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156866908 |
Gene | NTRK1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045059 |
dbSNP (classic) | rs797045059 |
ClinGen | rs797045059 |
ebi | rs797045059 |
HLI | rs797045059 |
Exac | rs797045059 |
Gnomad | rs797045059 |
Varsome | rs797045059 |
LitVar | rs797045059 |
Map | rs797045059 |
PheGenI | rs797045059 |
Biobank | rs797045059 |
1000 genomes | rs797045059 |
hgdp | rs797045059 |
ensembl | rs797045059 |
geneview | rs797045059 |
scholar | rs797045059 |
rs797045059 | |
pharmgkb | rs797045059 |
gwascentral | rs797045059 |
openSNP | rs797045059 |
23andMe | rs797045059 |
SNPshot | rs797045059 |
SNPdbe | rs797045059 |
MSV3d | rs797045059 |
GWAS Ctlg | rs797045059 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045059(C;C) |
Alt | rs797045059(C;C) |
Reference | Rs797045059(A;A) |
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.156836700A>C |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191113.1, |