rs34220980
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs34220980(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176717 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34220980 |
dbSNP (classic) | rs34220980 |
ClinGen | rs34220980 |
ebi | rs34220980 |
HLI | rs34220980 |
Exac | rs34220980 |
Gnomad | rs34220980 |
Varsome | rs34220980 |
LitVar | rs34220980 |
Map | rs34220980 |
PheGenI | rs34220980 |
Biobank | rs34220980 |
1000 genomes | rs34220980 |
hgdp | rs34220980 |
ensembl | rs34220980 |
geneview | rs34220980 |
scholar | rs34220980 |
rs34220980 | |
pharmgkb | rs34220980 |
gwascentral | rs34220980 |
openSNP | rs34220980 |
23andMe | rs34220980 |
SNPshot | rs34220980 |
SNPdbe | rs34220980 |
MSV3d | rs34220980 |
GWAS Ctlg | rs34220980 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34220980(G;G) |
Alt | rs34220980(G;G) |
Reference | Rs34220980(A;A) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBA1 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.226716A>G |
CLNSRC | |
CLNACC |
[PMID 3680504] An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.