rs33926764
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33926764(A;C) |
Make rs33926764(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226997 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33926764 |
dbSNP (classic) | rs33926764 |
ClinGen | rs33926764 |
ebi | rs33926764 |
HLI | rs33926764 |
Exac | rs33926764 |
Gnomad | rs33926764 |
Varsome | rs33926764 |
LitVar | rs33926764 |
Map | rs33926764 |
PheGenI | rs33926764 |
Biobank | rs33926764 |
1000 genomes | rs33926764 |
hgdp | rs33926764 |
ensembl | rs33926764 |
geneview | rs33926764 |
scholar | rs33926764 |
rs33926764 | |
pharmgkb | rs33926764 |
gwascentral | rs33926764 |
openSNP | rs33926764 |
23andMe | rs33926764 |
SNPshot | rs33926764 |
SNPdbe | rs33926764 |
MSV3d | rs33926764 |
GWAS Ctlg | rs33926764 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33926764(C;C) rs33926764(G;G) |
Alt | rs33926764(C;C) rs33926764(G;G) |
Reference | Rs33926764(A;A) |
Significance | Other |
Disease | HEMOGLOBIN N (TIMONE) HEMOGLOBIN J (LUHE) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN N (TIMONE) HEMOGLOBIN J (LUHE) |
Reversed | 1 |
HGVS | NC_000011.9:g.5248227T>C; NC_000011.9:g.5248227T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) HBVAR |
CLNACC | RCV000016511.2, RCV000016422.3, |
[PMID 2634671] Hb N-Timone [alpha 2 beta 2(8)(A5)Lys----Glu]: a new fast-moving variant with normal stability and oxygen affinity.