rs267607297
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267607297(-;-) |
Make rs267607297(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226784 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs267607297 |
dbSNP (classic) | rs267607297 |
ClinGen | rs267607297 |
ebi | rs267607297 |
HLI | rs267607297 |
Exac | rs267607297 |
Gnomad | rs267607297 |
Varsome | rs267607297 |
LitVar | rs267607297 |
Map | rs267607297 |
PheGenI | rs267607297 |
Biobank | rs267607297 |
1000 genomes | rs267607297 |
hgdp | rs267607297 |
ensembl | rs267607297 |
geneview | rs267607297 |
scholar | rs267607297 |
rs267607297 | |
pharmgkb | rs267607297 |
gwascentral | rs267607297 |
openSNP | rs267607297 |
23andMe | rs267607297 |
SNPshot | rs267607297 |
SNPdbe | rs267607297 |
MSV3d | rs267607297 |
GWAS Ctlg | rs267607297 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607297(-;-) |
Alt | rs267607297(-;-) |
Reference | Rs267607297(C;C) |
Significance | Pathogenic |
Disease | beta^0^ Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | beta^0^ Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5248014delG |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016680.26, |
[PMID 2736244] Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.