rs587776828
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 3 | Alpha-thalassemia allele carrier |
(A;A) | 0 | common in clinvar |
Make rs587776828(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 172913 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776828 |
dbSNP (classic) | rs587776828 |
ClinGen | rs587776828 |
ebi | rs587776828 |
HLI | rs587776828 |
Exac | rs587776828 |
Gnomad | rs587776828 |
Varsome | rs587776828 |
LitVar | rs587776828 |
Map | rs587776828 |
PheGenI | rs587776828 |
Biobank | rs587776828 |
1000 genomes | rs587776828 |
hgdp | rs587776828 |
ensembl | rs587776828 |
geneview | rs587776828 |
scholar | rs587776828 |
rs587776828 | |
pharmgkb | rs587776828 |
gwascentral | rs587776828 |
openSNP | rs587776828 |
23andMe | rs587776828 |
SNPshot | rs587776828 |
SNPdbe | rs587776828 |
MSV3d | rs587776828 |
GWAS Ctlg | rs587776828 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs587776828(-;-) |
Alt | rs587776828(-;-) |
Reference | Rs587776828(A;A) |
Significance | Pathogenic |
Disease | Alpha-thalassemia |
Variation | info |
Gene | HBA2 |
CLNDBN | Alpha-thalassemia, Hmong type |
Reversed | 0 |
HGVS | NC_000016.9:g.222912delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016985.22, |