rs33912272
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs33912272(C;T) |
Make rs33912272(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5227006 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33912272 |
dbSNP (classic) | rs33912272 |
ClinGen | rs33912272 |
ebi | rs33912272 |
HLI | rs33912272 |
Exac | rs33912272 |
Gnomad | rs33912272 |
Varsome | rs33912272 |
LitVar | rs33912272 |
Map | rs33912272 |
PheGenI | rs33912272 |
Biobank | rs33912272 |
1000 genomes | rs33912272 |
hgdp | rs33912272 |
ensembl | rs33912272 |
geneview | rs33912272 |
scholar | rs33912272 |
rs33912272 | |
pharmgkb | rs33912272 |
gwascentral | rs33912272 |
openSNP | rs33912272 |
23andMe | rs33912272 |
SNPshot | rs33912272 |
SNPdbe | rs33912272 |
MSV3d | rs33912272 |
GWAS Ctlg | rs33912272 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33912272(G;G) rs33912272(T;T) |
Alt | rs33912272(G;G) rs33912272(T;T) |
Reference | Rs33912272(C;C) |
Significance | Other |
Disease | HEMOGLOBIN TYNE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN TYNE |
Reversed | 1 |
HGVS | NC_000011.9:g.5248236G>A |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016806.2, |
[PMID 7852088] A new beta chain variant, Hb Tyne [beta 5(A2)Pro-->Ser].
[PMID 12507970] Hemoglobin Gorwihl [alpha2beta(2)5(A2)Pro-->Ala], an electrophoretically silent variant with impaired glycation.
[PMID 20353350] Relationship between impaired glycation and the N-terminal structure of the Hb Gorwihl [beta5(A2)Pro-->Ala] variant.