rs199422293
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199422293(C;T) |
Make rs199422293(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 1293430 |
Gene | TERT |
is a | snp |
is | mentioned by |
dbSNP | rs199422293 |
dbSNP (classic) | rs199422293 |
ClinGen | rs199422293 |
ebi | rs199422293 |
HLI | rs199422293 |
Exac | rs199422293 |
Gnomad | rs199422293 |
Varsome | rs199422293 |
LitVar | rs199422293 |
Map | rs199422293 |
PheGenI | rs199422293 |
Biobank | rs199422293 |
1000 genomes | rs199422293 |
hgdp | rs199422293 |
ensembl | rs199422293 |
geneview | rs199422293 |
scholar | rs199422293 |
rs199422293 | |
pharmgkb | rs199422293 |
gwascentral | rs199422293 |
openSNP | rs199422293 |
23andMe | rs199422293 |
SNPshot | rs199422293 |
SNPdbe | rs199422293 |
MSV3d | rs199422293 |
GWAS Ctlg | rs199422293 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422293(T;T) |
Alt | rs199422293(T;T) |
Reference | Rs199422293(C;C) |
Significance | Pathogenic |
Disease | Idiopathic fibrosing alveolitis |
Variation | info |
Gene | TERT |
CLNDBN | Idiopathic fibrosing alveolitis, chronic form |
Reversed | 1 |
HGVS | NC_000005.9:g.1293545G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032367.1, |