rs41474145
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TGAGG) | 3 | Alpha-thalassemia allele carrier |
(GAGGT;GAGGT) | 0 | common in clinvar |
(TGAGG;TGAGG) | 0 | common/normal |
Make rs41474145(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 173009 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41474145 |
dbSNP (classic) | rs41474145 |
ClinGen | rs41474145 |
ebi | rs41474145 |
HLI | rs41474145 |
Exac | rs41474145 |
Gnomad | rs41474145 |
Varsome | rs41474145 |
LitVar | rs41474145 |
Map | rs41474145 |
PheGenI | rs41474145 |
Biobank | rs41474145 |
1000 genomes | rs41474145 |
hgdp | rs41474145 |
ensembl | rs41474145 |
geneview | rs41474145 |
scholar | rs41474145 |
rs41474145 | |
pharmgkb | rs41474145 |
gwascentral | rs41474145 |
openSNP | rs41474145 |
23andMe | rs41474145 |
SNPshot | rs41474145 |
SNPdbe | rs41474145 |
MSV3d | rs41474145 |
GWAS Ctlg | rs41474145 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs41474145(-;-) |
Alt | rs41474145(-;-) |
Reference | Rs41474145(GAGGT;GAGGT) |
Significance | Pathogenic |
Disease | Alpha Thalassemia |
Variation | info |
Gene | HBA2 |
CLNDBN | alpha Thalassemia |
Reversed | 0 |
HGVS | NC_000016.9:g.223008_223012delTGAGG |
CLNSRC | |
CLNACC | RCV000417225.1, |