rs63750404
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;G) | 3 | Alpha-thalassemia allele carrier |
Make rs63750404(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 173510 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750404 |
dbSNP (classic) | rs63750404 |
ClinGen | rs63750404 |
ebi | rs63750404 |
HLI | rs63750404 |
Exac | rs63750404 |
Gnomad | rs63750404 |
Varsome | rs63750404 |
LitVar | rs63750404 |
Map | rs63750404 |
PheGenI | rs63750404 |
Biobank | rs63750404 |
1000 genomes | rs63750404 |
hgdp | rs63750404 |
ensembl | rs63750404 |
geneview | rs63750404 |
scholar | rs63750404 |
rs63750404 | |
pharmgkb | rs63750404 |
gwascentral | rs63750404 |
openSNP | rs63750404 |
23andMe | rs63750404 |
SNPshot | rs63750404 |
SNPdbe | rs63750404 |
MSV3d | rs63750404 |
GWAS Ctlg | rs63750404 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs63750404(G;G) |
Alt | rs63750404(G;G) |
Reference | Rs63750404(C;C) |
Significance | Pathogenic |
Disease | Alpha Thalassemia |
Variation | info |
Gene | HBA2 |
CLNDBN | alpha Thalassemia |
Reversed | 0 |
HGVS | NC_000016.9:g.223509C>G |
CLNSRC | |
CLNACC | RCV000417222.1, |