rs33916541
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
(GG;GG) | 0 | common in clinvar |
Make rs33916541(C;C) |
Make rs33916541(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226669 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33916541 |
dbSNP (classic) | rs33916541 |
ClinGen | rs33916541 |
ebi | rs33916541 |
HLI | rs33916541 |
Exac | rs33916541 |
Gnomad | rs33916541 |
Varsome | rs33916541 |
LitVar | rs33916541 |
Map | rs33916541 |
PheGenI | rs33916541 |
Biobank | rs33916541 |
1000 genomes | rs33916541 |
hgdp | rs33916541 |
ensembl | rs33916541 |
geneview | rs33916541 |
scholar | rs33916541 |
rs33916541 | |
pharmgkb | rs33916541 |
gwascentral | rs33916541 |
openSNP | rs33916541 |
23andMe | rs33916541 |
SNPshot | rs33916541 |
SNPdbe | rs33916541 |
MSV3d | rs33916541 |
GWAS Ctlg | rs33916541 |
Merged from | Rs121909804 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33916541(A;A) rs33916541(C;C) |
Alt | rs33916541(A;A) rs33916541(C;C) |
Reference | Rs33916541(G;G) |
Significance | Other |
Disease | HEMOGLOBIN AALBORG |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN AALBORG |
Reversed | 1 |
HGVS | NC_000011.9:g.5247899C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016242.2, |
[PMID 2272837] Characterization of Hb Aalborg, a new unstable hemoglobin variant, by fast atom bombardment mass spectrometry.