rs63750678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 3 | Alpha-thalassemia allele carrier |
(T;T) | 0 | common in clinvar |
Make rs63750678(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 172914 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750678 |
dbSNP (classic) | rs63750678 |
ClinGen | rs63750678 |
ebi | rs63750678 |
HLI | rs63750678 |
Exac | rs63750678 |
Gnomad | rs63750678 |
Varsome | rs63750678 |
LitVar | rs63750678 |
Map | rs63750678 |
PheGenI | rs63750678 |
Biobank | rs63750678 |
1000 genomes | rs63750678 |
hgdp | rs63750678 |
ensembl | rs63750678 |
geneview | rs63750678 |
scholar | rs63750678 |
rs63750678 | |
pharmgkb | rs63750678 |
gwascentral | rs63750678 |
openSNP | rs63750678 |
23andMe | rs63750678 |
SNPshot | rs63750678 |
SNPdbe | rs63750678 |
MSV3d | rs63750678 |
GWAS Ctlg | rs63750678 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs63750678(-;-) |
Alt | rs63750678(-;-) |
Reference | Rs63750678(T;T) |
Significance | Pathogenic |
Disease | Hemoglobin H disease |
Variation | info |
Gene | HBA2 |
CLNDBN | Hemoglobin H disease, nondeletional |
Reversed | 0 |
HGVS | NC_000016.9:g.222913delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016983.6, |