rs281864819
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Alpha-thalassemia allele carrier |
Make rs281864819(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 172982 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs281864819 |
dbSNP (classic) | rs281864819 |
ClinGen | rs281864819 |
ebi | rs281864819 |
HLI | rs281864819 |
Exac | rs281864819 |
Gnomad | rs281864819 |
Varsome | rs281864819 |
LitVar | rs281864819 |
Map | rs281864819 |
PheGenI | rs281864819 |
Biobank | rs281864819 |
1000 genomes | rs281864819 |
hgdp | rs281864819 |
ensembl | rs281864819 |
geneview | rs281864819 |
scholar | rs281864819 |
rs281864819 | |
pharmgkb | rs281864819 |
gwascentral | rs281864819 |
openSNP | rs281864819 |
23andMe | rs281864819 |
SNPshot | rs281864819 |
SNPdbe | rs281864819 |
MSV3d | rs281864819 |
GWAS Ctlg | rs281864819 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs281864819(A;A) rs281864819(C;C) rs281864819(T;T) |
Alt | rs281864819(A;A) rs281864819(C;C) rs281864819(T;T) |
Reference | Rs281864819(G;G) |
Significance | Pathogenic |
Disease | Alpha Thalassemia |
Variation | info |
Gene | HBA2 |
CLNDBN | alpha Thalassemia |
Reversed | 0 |
HGVS | NC_000016.9:g.222981G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016976.28, |