rs34013622
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34013622(A;A) |
Make rs34013622(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226592 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34013622 |
dbSNP (classic) | rs34013622 |
ClinGen | rs34013622 |
ebi | rs34013622 |
HLI | rs34013622 |
Exac | rs34013622 |
Gnomad | rs34013622 |
Varsome | rs34013622 |
LitVar | rs34013622 |
Map | rs34013622 |
PheGenI | rs34013622 |
Biobank | rs34013622 |
1000 genomes | rs34013622 |
hgdp | rs34013622 |
ensembl | rs34013622 |
geneview | rs34013622 |
scholar | rs34013622 |
rs34013622 | |
pharmgkb | rs34013622 |
gwascentral | rs34013622 |
openSNP | rs34013622 |
23andMe | rs34013622 |
SNPshot | rs34013622 |
SNPdbe | rs34013622 |
MSV3d | rs34013622 |
GWAS Ctlg | rs34013622 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34013622(A;A) rs34013622(G;G) |
Alt | rs34013622(A;A) rs34013622(G;G) |
Reference | Rs34013622(T;T) |
Significance | Other |
Disease | HEMOGLOBIN COIMBRA |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN COIMBRA |
Reversed | 1 |
HGVS | NC_000011.10:g.5226592A>Y |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016757.1, |
[PMID 1814856] Hb Coimbra or alpha 2 beta (2)99(G1)Asp----Glu, a newly discovered highoxygen affinity variant.