rs34889882
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent |
(-;CT) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
(CT;CT) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5227004 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34889882 |
dbSNP (classic) | rs34889882 |
ClinGen | rs34889882 |
ebi | rs34889882 |
HLI | rs34889882 |
Exac | rs34889882 |
Gnomad | rs34889882 |
Varsome | rs34889882 |
LitVar | rs34889882 |
Map | rs34889882 |
PheGenI | rs34889882 |
Biobank | rs34889882 |
1000 genomes | rs34889882 |
hgdp | rs34889882 |
ensembl | rs34889882 |
geneview | rs34889882 |
scholar | rs34889882 |
rs34889882 | |
pharmgkb | rs34889882 |
gwascentral | rs34889882 |
openSNP | rs34889882 |
23andMe | rs34889882 |
SNPshot | rs34889882 |
SNPdbe | rs34889882 |
MSV3d | rs34889882 |
GWAS Ctlg | rs34889882 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | Rs34889882(-;-) |
Alt | Rs34889882(-;-) |
Reference | Rs34889882(CT;CT) |
Significance | Pathogenic |
Disease | beta^0^ Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | beta^0^ Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5248234_5248235delAG |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016678.26, |