rs56348461
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs56348461(A;C) |
Make rs56348461(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173590 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs56348461 |
dbSNP (classic) | rs56348461 |
ClinGen | rs56348461 |
ebi | rs56348461 |
HLI | rs56348461 |
Exac | rs56348461 |
Gnomad | rs56348461 |
Varsome | rs56348461 |
LitVar | rs56348461 |
Map | rs56348461 |
PheGenI | rs56348461 |
Biobank | rs56348461 |
1000 genomes | rs56348461 |
hgdp | rs56348461 |
ensembl | rs56348461 |
geneview | rs56348461 |
scholar | rs56348461 |
rs56348461 | |
pharmgkb | rs56348461 |
gwascentral | rs56348461 |
openSNP | rs56348461 |
23andMe | rs56348461 |
SNPshot | rs56348461 |
SNPdbe | rs56348461 |
MSV3d | rs56348461 |
GWAS Ctlg | rs56348461 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56348461(C;C) |
Alt | rs56348461(C;C) |
Reference | Rs56348461(A;A) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBA2 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.223589A>C |
CLNSRC | |
CLNACC |
[PMID 6188720] Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity.