rs193922555
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922555(-;-) |
Make rs193922555(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226641 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs193922555 |
dbSNP (classic) | rs193922555 |
ClinGen | rs193922555 |
ebi | rs193922555 |
HLI | rs193922555 |
Exac | rs193922555 |
Gnomad | rs193922555 |
Varsome | rs193922555 |
LitVar | rs193922555 |
Map | rs193922555 |
PheGenI | rs193922555 |
Biobank | rs193922555 |
1000 genomes | rs193922555 |
hgdp | rs193922555 |
ensembl | rs193922555 |
geneview | rs193922555 |
scholar | rs193922555 |
rs193922555 | |
pharmgkb | rs193922555 |
gwascentral | rs193922555 |
openSNP | rs193922555 |
23andMe | rs193922555 |
SNPshot | rs193922555 |
SNPdbe | rs193922555 |
MSV3d | rs193922555 |
GWAS Ctlg | rs193922555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922555(-;-) |
Alt | rs193922555(-;-) |
Reference | Rs193922555(G;G) |
Significance | Pathogenic |
Disease | Beta thalassemia major Beta Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | Beta thalassemia major beta Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5247871delC |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029971.1, RCV000169623.1, |
[PMID 1517107] A mutation of CDS 82/83 (-G) observed in a Yugoslavian family with a heterozygosity for beta-thalassemia.
[PMID 1740317] Molecular characterization of beta-thalassemia in Czechoslovakia.
[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.
[PMID 9401495] Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.
[PMID 16311287] Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.
[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).