rs33993568
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33993568(A;A) |
Make rs33993568(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226629 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33993568 |
dbSNP (classic) | rs33993568 |
ClinGen | rs33993568 |
ebi | rs33993568 |
HLI | rs33993568 |
Exac | rs33993568 |
Gnomad | rs33993568 |
Varsome | rs33993568 |
LitVar | rs33993568 |
Map | rs33993568 |
PheGenI | rs33993568 |
Biobank | rs33993568 |
1000 genomes | rs33993568 |
hgdp | rs33993568 |
ensembl | rs33993568 |
geneview | rs33993568 |
scholar | rs33993568 |
rs33993568 | |
pharmgkb | rs33993568 |
gwascentral | rs33993568 |
openSNP | rs33993568 |
23andMe | rs33993568 |
SNPshot | rs33993568 |
SNPdbe | rs33993568 |
MSV3d | rs33993568 |
GWAS Ctlg | rs33993568 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33993568(A;A) rs33993568(T;T) |
Alt | rs33993568(A;A) rs33993568(T;T) |
Reference | Rs33993568(C;C) |
Significance | Other |
Disease | not specified HEMOGLOBIN D (IBADAN) |
Variation | info |
Gene | HBB |
CLNDBN | not specified HEMOGLOBIN D (IBADAN) |
Reversed | 1 |
HGVS | NC_000011.9:g.5247859G>A; NC_000011.9:g.5247859G>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016753.3, RCV000016313.2, |
[PMID 457424] Hemoglobin D Ibadan trait in combination with sigma beta thalassemia.
[PMID 1891024] Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori.