rs34094720
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs34094720(C;T) |
Make rs34094720(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 1293652 |
Gene | TERT |
is a | snp |
is | mentioned by |
dbSNP | rs34094720 |
dbSNP (classic) | rs34094720 |
ClinGen | rs34094720 |
ebi | rs34094720 |
HLI | rs34094720 |
Exac | rs34094720 |
Gnomad | rs34094720 |
Varsome | rs34094720 |
LitVar | rs34094720 |
Map | rs34094720 |
PheGenI | rs34094720 |
Biobank | rs34094720 |
1000 genomes | rs34094720 |
hgdp | rs34094720 |
ensembl | rs34094720 |
geneview | rs34094720 |
scholar | rs34094720 |
rs34094720 | |
pharmgkb | rs34094720 |
gwascentral | rs34094720 |
openSNP | rs34094720 |
23andMe | rs34094720 |
SNPshot | rs34094720 |
SNPdbe | rs34094720 |
MSV3d | rs34094720 |
GWAS Ctlg | rs34094720 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34094720(T;T) |
Alt | rs34094720(T;T) |
Reference | Rs34094720(C;C) |
Significance | Other |
Disease | Pulmonary fibrosis and/or bone marrow failure Aplastic anemia Dyskeratosis congenita not specified Dyskeratosis congenita Idiopathic fibrosing alveolitis Dyskeratosis Congenita not provided |
Variation | info |
Gene | TERT |
CLNDBN | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal recessive, 4 not specified Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form Dyskeratosis Congenita, Recessive not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.1293767G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013567.22, RCV000032365.2, RCV000190902.2, RCV000218461.1, RCV000234686.2, RCV000262966.1, RCV000318265.1, RCV000425346.1, |