rs33953406
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33953406(A;C) |
Make rs33953406(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225645 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33953406 |
dbSNP (classic) | rs33953406 |
ClinGen | rs33953406 |
ebi | rs33953406 |
HLI | rs33953406 |
Exac | rs33953406 |
Gnomad | rs33953406 |
Varsome | rs33953406 |
LitVar | rs33953406 |
Map | rs33953406 |
PheGenI | rs33953406 |
Biobank | rs33953406 |
1000 genomes | rs33953406 |
hgdp | rs33953406 |
ensembl | rs33953406 |
geneview | rs33953406 |
scholar | rs33953406 |
rs33953406 | |
pharmgkb | rs33953406 |
gwascentral | rs33953406 |
openSNP | rs33953406 |
23andMe | rs33953406 |
SNPshot | rs33953406 |
SNPdbe | rs33953406 |
MSV3d | rs33953406 |
GWAS Ctlg | rs33953406 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33953406(C;C) rs33953406(G;G) rs33953406(T;T) |
Alt | rs33953406(C;C) rs33953406(G;G) rs33953406(T;T) |
Reference | Rs33953406(A;A) |
Significance | Other |
Disease | HEMOGLOBIN K (WOOLWICH) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN K (WOOLWICH) |
Reversed | 1 |
HGVS | NC_000011.9:g.5246875T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016431.2, |
[PMID 4999133] Haemoglobin K Woolwich (alpha 2, beta 2 132 lysine leads to glutamine) in Ghana.
[PMID 6249934] Haemoglobin K Woolwich: a study of the family of a homozygote.