rs33991472
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33991472(C;G) |
Make rs33991472(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226716 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33991472 |
dbSNP (classic) | rs33991472 |
ClinGen | rs33991472 |
ebi | rs33991472 |
HLI | rs33991472 |
Exac | rs33991472 |
Gnomad | rs33991472 |
Varsome | rs33991472 |
LitVar | rs33991472 |
Map | rs33991472 |
PheGenI | rs33991472 |
Biobank | rs33991472 |
1000 genomes | rs33991472 |
hgdp | rs33991472 |
ensembl | rs33991472 |
geneview | rs33991472 |
scholar | rs33991472 |
rs33991472 | |
pharmgkb | rs33991472 |
gwascentral | rs33991472 |
openSNP | rs33991472 |
23andMe | rs33991472 |
SNPshot | rs33991472 |
SNPdbe | rs33991472 |
MSV3d | rs33991472 |
GWAS Ctlg | rs33991472 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33991472(A;A) rs33991472(G;G) |
Alt | rs33991472(A;A) rs33991472(G;G) |
Reference | Rs33991472(C;C) |
Significance | Other |
Disease | Hemoglobinopathy HEMOGLOBIN ZIGUINCHOR |
Variation | info |
Gene | HBB |
CLNDBN | Hemoglobinopathy HEMOGLOBIN ZIGUINCHOR |
Reversed | 1 |
HGVS | NC_000011.9:g.5247946G>C |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016651.3, RCV000030905.3, |
[PMID 5684629] Haemoglobin Dhofar--a new variant from Southern Arabia.
[PMID 7786794] Haemoglobin Dhofar is linked to the codon 29 C-->T (IVS-1 nt-3) splice mutation which causes beta+ thalassaemia.