rs34704828
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs34704828(A;A) |
Make rs34704828(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 5227050 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34704828 |
dbSNP (classic) | rs34704828 |
ClinGen | rs34704828 |
ebi | rs34704828 |
HLI | rs34704828 |
Exac | rs34704828 |
Gnomad | rs34704828 |
Varsome | rs34704828 |
LitVar | rs34704828 |
Map | rs34704828 |
PheGenI | rs34704828 |
Biobank | rs34704828 |
1000 genomes | rs34704828 |
hgdp | rs34704828 |
ensembl | rs34704828 |
geneview | rs34704828 |
scholar | rs34704828 |
rs34704828 | |
pharmgkb | rs34704828 |
gwascentral | rs34704828 |
openSNP | rs34704828 |
23andMe | rs34704828 |
SNPshot | rs34704828 |
SNPdbe | rs34704828 |
MSV3d | rs34704828 |
GWAS Ctlg | rs34704828 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34704828(A;A) |
Alt | rs34704828(A;A) |
Reference | Rs34704828(G;G) |
Significance | Pathogenic |
Disease | Beta Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | beta Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5248280C>T |
CLNSRC | |
CLNACC | RCV000445640.1, |