rs33972927
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs33972927(C;C) |
Make rs33972927(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226612 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33972927 |
dbSNP (classic) | rs33972927 |
ClinGen | rs33972927 |
ebi | rs33972927 |
HLI | rs33972927 |
Exac | rs33972927 |
Gnomad | rs33972927 |
Varsome | rs33972927 |
LitVar | rs33972927 |
Map | rs33972927 |
PheGenI | rs33972927 |
Biobank | rs33972927 |
1000 genomes | rs33972927 |
hgdp | rs33972927 |
ensembl | rs33972927 |
geneview | rs33972927 |
scholar | rs33972927 |
rs33972927 | |
pharmgkb | rs33972927 |
gwascentral | rs33972927 |
openSNP | rs33972927 |
23andMe | rs33972927 |
SNPshot | rs33972927 |
SNPdbe | rs33972927 |
MSV3d | rs33972927 |
GWAS Ctlg | rs33972927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33972927(C;C) |
Alt | rs33972927(C;C) |
Reference | Rs33972927(T;T) |
Significance | Other |
Disease | HEMOGLOBIN OKAZAKI HEMOGLOBIN CLEVELAND |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN OKAZAKI HEMOGLOBIN CLEVELAND |
Reversed | 1 |
HGVS | NC_000011.9:g.5247842A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016530.2, RCV000016758.2, |
[PMID 6745435] Hb Okazaki [beta 93(F8) Cys----Arg], a new hemoglobin variant with increased oxygen affinity and instability.