rs36008922
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs36008922(A;A) |
Make rs36008922(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226690 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs36008922 |
dbSNP (classic) | rs36008922 |
ClinGen | rs36008922 |
ebi | rs36008922 |
HLI | rs36008922 |
Exac | rs36008922 |
Gnomad | rs36008922 |
Varsome | rs36008922 |
LitVar | rs36008922 |
Map | rs36008922 |
PheGenI | rs36008922 |
Biobank | rs36008922 |
1000 genomes | rs36008922 |
hgdp | rs36008922 |
ensembl | rs36008922 |
geneview | rs36008922 |
scholar | rs36008922 |
rs36008922 | |
pharmgkb | rs36008922 |
gwascentral | rs36008922 |
openSNP | rs36008922 |
23andMe | rs36008922 |
SNPshot | rs36008922 |
SNPdbe | rs36008922 |
MSV3d | rs36008922 |
GWAS Ctlg | rs36008922 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs36008922(A;A) |
Alt | rs36008922(A;A) |
Reference | Rs36008922(G;G) |
Significance | Other |
Disease | HEMOGLOBIN BRISTOL HEMOGLOBIN ALESHA |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN BRISTOL HEMOGLOBIN ALESHA |
Reversed | 1 |
HGVS | NC_000011.9:g.5247920C>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016276.2, RCV000016801.2, |
[PMID 8330974] Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA.
[PMID 15646651] Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy.