rs61748181
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 0 | Benign variant according to ClinVar |
(T;T) | 0 | Benign variant according to ClinVar |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 1294051 |
Gene | TERT |
is a | snp |
is | mentioned by |
dbSNP | rs61748181 |
dbSNP (classic) | rs61748181 |
ClinGen | rs61748181 |
ebi | rs61748181 |
HLI | rs61748181 |
Exac | rs61748181 |
Gnomad | rs61748181 |
Varsome | rs61748181 |
LitVar | rs61748181 |
Map | rs61748181 |
PheGenI | rs61748181 |
Biobank | rs61748181 |
1000 genomes | rs61748181 |
hgdp | rs61748181 |
ensembl | rs61748181 |
geneview | rs61748181 |
scholar | rs61748181 |
rs61748181 | |
pharmgkb | rs61748181 |
gwascentral | rs61748181 |
openSNP | rs61748181 |
23andMe | rs61748181 |
SNPshot | rs61748181 |
SNPdbe | rs61748181 |
MSV3d | rs61748181 |
GWAS Ctlg | rs61748181 |
GMAF | 0.01423 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs61748181(T;T) |
Alt | Rs61748181(T;T) |
Reference | Rs61748181(C;C) |
Significance | Other |
Disease | Aplastic anemia not specified Idiopathic fibrosing alveolitis Dyskeratosis Congenita Dyskeratosis congenita |
Variation | info |
Gene | TERT |
CLNDBN | Aplastic anemia not specified Idiopathic fibrosing alveolitis, chronic form Dyskeratosis Congenita, Recessive Dyskeratosis congenita, autosomal dominant, 2 |
Reversed | 0 |
HGVS | NC_000005.9:g.1294166C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000032399.2, RCV000176003.3, RCV000295005.1, RCV000391188.1, RCV000465523.1, |
[PMID 26590902] Fine-mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci