rs33994806
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs33994806(A;A) |
Make rs33994806(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5227157 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33994806 |
dbSNP (classic) | rs33994806 |
ClinGen | rs33994806 |
ebi | rs33994806 |
HLI | rs33994806 |
Exac | rs33994806 |
Gnomad | rs33994806 |
Varsome | rs33994806 |
LitVar | rs33994806 |
Map | rs33994806 |
PheGenI | rs33994806 |
Biobank | rs33994806 |
1000 genomes | rs33994806 |
hgdp | rs33994806 |
ensembl | rs33994806 |
geneview | rs33994806 |
scholar | rs33994806 |
rs33994806 | |
pharmgkb | rs33994806 |
gwascentral | rs33994806 |
openSNP | rs33994806 |
23andMe | rs33994806 |
SNPshot | rs33994806 |
SNPdbe | rs33994806 |
MSV3d | rs33994806 |
GWAS Ctlg | rs33994806 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33994806(A;A) rs33994806(G;G) rs33994806(T;T) |
Alt | rs33994806(A;A) rs33994806(G;G) rs33994806(T;T) |
Reference | Rs33994806(C;C) |
Significance | Pathogenic |
Disease | Beta Thalassemia Beta-plus-thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | beta Thalassemia Beta-plus-thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5248387G>A; NC_000011.9:g.5248387G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029949.1, RCV000016723.26, RCV000029948.2, |
[PMID 1550780] Promoter mutations producing mild beta-thalassaemia in the Italian population.
[PMID 2197725] The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.
[PMID 2393018] The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.