rs34806456
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(A;G) | 3 | Alpha-thalassemia allele carrier |
(A;T) | 3 | Alpha-Thalassemia carrier |
Make rs34806456(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177131 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34806456 |
dbSNP (classic) | rs34806456 |
ClinGen | rs34806456 |
ebi | rs34806456 |
HLI | rs34806456 |
Exac | rs34806456 |
Gnomad | rs34806456 |
Varsome | rs34806456 |
LitVar | rs34806456 |
Map | rs34806456 |
PheGenI | rs34806456 |
Biobank | rs34806456 |
1000 genomes | rs34806456 |
hgdp | rs34806456 |
ensembl | rs34806456 |
geneview | rs34806456 |
scholar | rs34806456 |
rs34806456 | |
pharmgkb | rs34806456 |
gwascentral | rs34806456 |
openSNP | rs34806456 |
23andMe | rs34806456 |
SNPshot | rs34806456 |
SNPdbe | rs34806456 |
MSV3d | rs34806456 |
GWAS Ctlg | rs34806456 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs34806456(G;G) |
Alt | rs34806456(G;G) |
Reference | Rs34806456(A;A) |
Significance | Other |
Disease | HEMOGLOBIN TURRIFF |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN TURRIFF |
Reversed | 0 |
HGVS | NC_000016.9:g.227130A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017190.2, |
[PMID 1634357] A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys----Glu]: the interference of abnormal hemoglobins in Hb A1c determination.