rs34883338
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs34883338(C;T) |
Make rs34883338(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5227163 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34883338 |
dbSNP (classic) | rs34883338 |
ClinGen | rs34883338 |
ebi | rs34883338 |
HLI | rs34883338 |
Exac | rs34883338 |
Gnomad | rs34883338 |
Varsome | rs34883338 |
LitVar | rs34883338 |
Map | rs34883338 |
PheGenI | rs34883338 |
Biobank | rs34883338 |
1000 genomes | rs34883338 |
hgdp | rs34883338 |
ensembl | rs34883338 |
geneview | rs34883338 |
scholar | rs34883338 |
rs34883338 | |
pharmgkb | rs34883338 |
gwascentral | rs34883338 |
openSNP | rs34883338 |
23andMe | rs34883338 |
SNPshot | rs34883338 |
SNPdbe | rs34883338 |
MSV3d | rs34883338 |
GWAS Ctlg | rs34883338 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34883338(T;T) |
Alt | rs34883338(T;T) |
Reference | Rs34883338(C;C) |
Significance | Pathogenic |
Disease | Beta-plus-thalassemia Beta Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | Beta-plus-thalassemia beta Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5248393G>A |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016720.26, RCV000445639.1, |
[PMID 2197725] The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.
[PMID 7794779] A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia.
[PMID 8438884] A mild type of Hb S-beta(+)-thalassemia [-92(C-->T)] in a Sicilian family.