rs34933455
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34933455(C;C) |
Make rs34933455(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226705 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34933455 |
dbSNP (classic) | rs34933455 |
ClinGen | rs34933455 |
ebi | rs34933455 |
HLI | rs34933455 |
Exac | rs34933455 |
Gnomad | rs34933455 |
Varsome | rs34933455 |
LitVar | rs34933455 |
Map | rs34933455 |
PheGenI | rs34933455 |
Biobank | rs34933455 |
1000 genomes | rs34933455 |
hgdp | rs34933455 |
ensembl | rs34933455 |
geneview | rs34933455 |
scholar | rs34933455 |
rs34933455 | |
pharmgkb | rs34933455 |
gwascentral | rs34933455 |
openSNP | rs34933455 |
23andMe | rs34933455 |
SNPshot | rs34933455 |
SNPdbe | rs34933455 |
MSV3d | rs34933455 |
GWAS Ctlg | rs34933455 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34933455(C;C) |
Alt | rs34933455(C;C) |
Reference | Rs34933455(G;G) |
Significance | Other |
Disease | HEMOGLOBIN DUARTE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN DUARTE |
Reversed | 1 |
HGVS | NC_000011.9:g.5247935C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016328.2, |
[PMID 4361395] Hemoglobin Duarte: (alpha2beta2 62(E6)Ala leads to Pro): a new unstable hemoglobin with increased oxygen affinity.