rs63750801
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs63750801(C;C) |
Make rs63750801(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173586 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750801 |
dbSNP (classic) | rs63750801 |
ClinGen | rs63750801 |
ebi | rs63750801 |
HLI | rs63750801 |
Exac | rs63750801 |
Gnomad | rs63750801 |
Varsome | rs63750801 |
LitVar | rs63750801 |
Map | rs63750801 |
PheGenI | rs63750801 |
Biobank | rs63750801 |
1000 genomes | rs63750801 |
hgdp | rs63750801 |
ensembl | rs63750801 |
geneview | rs63750801 |
scholar | rs63750801 |
rs63750801 | |
pharmgkb | rs63750801 |
gwascentral | rs63750801 |
openSNP | rs63750801 |
23andMe | rs63750801 |
SNPshot | rs63750801 |
SNPdbe | rs63750801 |
MSV3d | rs63750801 |
GWAS Ctlg | rs63750801 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750801(C;C) |
Alt | rs63750801(C;C) |
Reference | Rs63750801(T;T) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBA2 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.223585T>C |
CLNSRC | |
CLNACC |
[PMID 2108715] Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue.