rs149566858
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs149566858(A;A) |
Make rs149566858(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 1278750 |
Gene | TERT |
is a | snp |
is | mentioned by |
dbSNP | rs149566858 |
dbSNP (classic) | rs149566858 |
ClinGen | rs149566858 |
ebi | rs149566858 |
HLI | rs149566858 |
Exac | rs149566858 |
Gnomad | rs149566858 |
Varsome | rs149566858 |
LitVar | rs149566858 |
Map | rs149566858 |
PheGenI | rs149566858 |
Biobank | rs149566858 |
1000 genomes | rs149566858 |
hgdp | rs149566858 |
ensembl | rs149566858 |
geneview | rs149566858 |
scholar | rs149566858 |
rs149566858 | |
pharmgkb | rs149566858 |
gwascentral | rs149566858 |
openSNP | rs149566858 |
23andMe | rs149566858 |
SNPshot | rs149566858 |
SNPdbe | rs149566858 |
MSV3d | rs149566858 |
GWAS Ctlg | rs149566858 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149566858(A;A) |
Alt | rs149566858(A;A) |
Reference | Rs149566858(G;G) |
Significance | Pathogenic |
Disease | Dyskeratosis congenita autosomal dominant Dyskeratosis congenita Idiopathic fibrosing alveolitis |
Variation | info |
Gene | TERT |
CLNDBN | Dyskeratosis congenita autosomal dominant Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form |
Reversed | 0 |
HGVS | NC_000005.9:g.1278865G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000032378.1, RCV000458797.1, |