rs34802738
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34802738(C;C) |
Make rs34802738(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5233007 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs34802738 |
dbSNP (classic) | rs34802738 |
ClinGen | rs34802738 |
ebi | rs34802738 |
HLI | rs34802738 |
Exac | rs34802738 |
Gnomad | rs34802738 |
Varsome | rs34802738 |
LitVar | rs34802738 |
Map | rs34802738 |
PheGenI | rs34802738 |
Biobank | rs34802738 |
1000 genomes | rs34802738 |
hgdp | rs34802738 |
ensembl | rs34802738 |
geneview | rs34802738 |
scholar | rs34802738 |
rs34802738 | |
pharmgkb | rs34802738 |
gwascentral | rs34802738 |
openSNP | rs34802738 |
23andMe | rs34802738 |
SNPshot | rs34802738 |
SNPdbe | rs34802738 |
MSV3d | rs34802738 |
GWAS Ctlg | rs34802738 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34802738(C;C) |
Alt | rs34802738(C;C) |
Reference | Rs34802738(T;T) |
Significance | Other |
Disease | HEMOGLOBIN A(2) NINIVE |
Variation | info |
Gene | HBD |
CLNDBN | HEMOGLOBIN A(2) NINIVE |
Reversed | 1 |
HGVS | NC_000011.9:g.5254237A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016239.2, |
[PMID 15921167] Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.