rs33982568
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(CC;CC) | 0 | common in clinvar |
Make rs33982568(A;A) |
Make rs33982568(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226784 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33982568 |
dbSNP (classic) | rs33982568 |
ClinGen | rs33982568 |
ebi | rs33982568 |
HLI | rs33982568 |
Exac | rs33982568 |
Gnomad | rs33982568 |
Varsome | rs33982568 |
LitVar | rs33982568 |
Map | rs33982568 |
PheGenI | rs33982568 |
Biobank | rs33982568 |
1000 genomes | rs33982568 |
hgdp | rs33982568 |
ensembl | rs33982568 |
geneview | rs33982568 |
scholar | rs33982568 |
rs33982568 | |
pharmgkb | rs33982568 |
gwascentral | rs33982568 |
openSNP | rs33982568 |
23andMe | rs33982568 |
SNPshot | rs33982568 |
SNPdbe | rs33982568 |
MSV3d | rs33982568 |
GWAS Ctlg | rs33982568 |
Merged from | Rs121909823 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33982568(A;A) rs33982568(T;T) |
Alt | rs33982568(A;A) rs33982568(T;T) |
Reference | Rs33982568(C;C) |
Significance | Pathogenic |
Disease | beta^0^ Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | beta^0^ Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5248014G>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016662.26, |
[PMID 2393018] The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.
[PMID 2542242] A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions.