rs199422298
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199422298(C;T) |
Make rs199422298(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 1278780 |
Gene | TERT |
is a | snp |
is | mentioned by |
dbSNP | rs199422298 |
dbSNP (classic) | rs199422298 |
ClinGen | rs199422298 |
ebi | rs199422298 |
HLI | rs199422298 |
Exac | rs199422298 |
Gnomad | rs199422298 |
Varsome | rs199422298 |
LitVar | rs199422298 |
Map | rs199422298 |
PheGenI | rs199422298 |
Biobank | rs199422298 |
1000 genomes | rs199422298 |
hgdp | rs199422298 |
ensembl | rs199422298 |
geneview | rs199422298 |
scholar | rs199422298 |
rs199422298 | |
pharmgkb | rs199422298 |
gwascentral | rs199422298 |
openSNP | rs199422298 |
23andMe | rs199422298 |
SNPshot | rs199422298 |
SNPdbe | rs199422298 |
MSV3d | rs199422298 |
GWAS Ctlg | rs199422298 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422298(T;T) |
Alt | rs199422298(T;T) |
Reference | Rs199422298(C;C) |
Significance | Pathogenic |
Disease | Aplastic anemia |
Variation | info |
Gene | TERT |
CLNDBN | Aplastic anemia |
Reversed | 1 |
HGVS | NC_000005.9:g.1278895G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032376.1, |