rs41491146
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs41491146(C;G) |
Make rs41491146(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173161 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41491146 |
dbSNP (classic) | rs41491146 |
ClinGen | rs41491146 |
ebi | rs41491146 |
HLI | rs41491146 |
Exac | rs41491146 |
Gnomad | rs41491146 |
Varsome | rs41491146 |
LitVar | rs41491146 |
Map | rs41491146 |
PheGenI | rs41491146 |
Biobank | rs41491146 |
1000 genomes | rs41491146 |
hgdp | rs41491146 |
ensembl | rs41491146 |
geneview | rs41491146 |
scholar | rs41491146 |
rs41491146 | |
pharmgkb | rs41491146 |
gwascentral | rs41491146 |
openSNP | rs41491146 |
23andMe | rs41491146 |
SNPshot | rs41491146 |
SNPdbe | rs41491146 |
MSV3d | rs41491146 |
GWAS Ctlg | rs41491146 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41491146(G;G) |
Alt | rs41491146(G;G) |
Reference | Rs41491146(C;C) |
Significance | Other |
Disease | HEMOGLOBIN HIROSAKI |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN HIROSAKI |
Reversed | 0 |
HGVS | NC_000016.9:g.223160C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017048.1, |
[PMID 701086] Further studies on hemoglobin Hirosaki: demonstration of its presence at low concentration.
[PMID 1182166] Hemoglobin Hirosaki (alpha 43 [CE 1] Phe replaced by Leu), a new unstable variant.
[PMID 1954347] Further cases of Hb Hirosaki in two Japanese families.