rs41479844
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | Alpha-thalassemia allele carrier |
(T;T) | 0 | common in complete genomics |
Make rs41479844(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173500 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41479844 |
dbSNP (classic) | rs41479844 |
ClinGen | rs41479844 |
ebi | rs41479844 |
HLI | rs41479844 |
Exac | rs41479844 |
Gnomad | rs41479844 |
Varsome | rs41479844 |
LitVar | rs41479844 |
Map | rs41479844 |
PheGenI | rs41479844 |
Biobank | rs41479844 |
1000 genomes | rs41479844 |
hgdp | rs41479844 |
ensembl | rs41479844 |
geneview | rs41479844 |
scholar | rs41479844 |
rs41479844 | |
pharmgkb | rs41479844 |
gwascentral | rs41479844 |
openSNP | rs41479844 |
23andMe | rs41479844 |
SNPshot | rs41479844 |
SNPdbe | rs41479844 |
MSV3d | rs41479844 |
GWAS Ctlg | rs41479844 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs41479844(G;G) |
Alt | rs41479844(G;G) |
Reference | Rs41479844(T;T) |
Significance | Other |
Disease | HEMOGLOBIN SUAN-DOK |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN SUAN-DOK |
Reversed | 0 |
HGVS | NC_000016.9:g.223499T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016899.1, |
[PMID 478977] Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia.
[PMID 2384313] Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I.
[PMID 15481883] Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry.