rs41328049
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs41328049(C;C) |
Make rs41328049(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173207 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41328049 |
dbSNP (classic) | rs41328049 |
ClinGen | rs41328049 |
ebi | rs41328049 |
HLI | rs41328049 |
Exac | rs41328049 |
Gnomad | rs41328049 |
Varsome | rs41328049 |
LitVar | rs41328049 |
Map | rs41328049 |
PheGenI | rs41328049 |
Biobank | rs41328049 |
1000 genomes | rs41328049 |
hgdp | rs41328049 |
ensembl | rs41328049 |
geneview | rs41328049 |
scholar | rs41328049 |
rs41328049 | |
pharmgkb | rs41328049 |
gwascentral | rs41328049 |
openSNP | rs41328049 |
23andMe | rs41328049 |
SNPshot | rs41328049 |
SNPdbe | rs41328049 |
MSV3d | rs41328049 |
GWAS Ctlg | rs41328049 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41328049(A;A) rs41328049(C;C) |
Alt | rs41328049(A;A) rs41328049(C;C) |
Reference | Rs41328049(G;G) |
Significance | Other |
Disease | HEMOGLOBIN ZURICH ALBISRIEDEN Alpha plus thalassemia |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN ZURICH ALBISRIEDEN Alpha plus thalassemia |
Reversed | 0 |
HGVS | NC_000016.9:g.223206G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016978.2, RCV000016979.28, |
[PMID 15658192] A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)].