rs41361546
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs41361546(A;G) |
Make rs41361546(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173589 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41361546 |
dbSNP (classic) | rs41361546 |
ClinGen | rs41361546 |
ebi | rs41361546 |
HLI | rs41361546 |
Exac | rs41361546 |
Gnomad | rs41361546 |
Varsome | rs41361546 |
LitVar | rs41361546 |
Map | rs41361546 |
PheGenI | rs41361546 |
Biobank | rs41361546 |
1000 genomes | rs41361546 |
hgdp | rs41361546 |
ensembl | rs41361546 |
geneview | rs41361546 |
scholar | rs41361546 |
rs41361546 | |
pharmgkb | rs41361546 |
gwascentral | rs41361546 |
openSNP | rs41361546 |
23andMe | rs41361546 |
SNPshot | rs41361546 |
SNPdbe | rs41361546 |
MSV3d | rs41361546 |
GWAS Ctlg | rs41361546 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41361546(G;G) |
Alt | rs41361546(G;G) |
Reference | Rs41361546(A;A) |
Significance | Other |
Disease | HEMOGLOBIN HANAMAKI |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN HANAMAKI |
Reversed | 0 |
HGVS | NC_000016.9:g.223588A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016932.1, |
[PMID 7928378] A second case of Hb Hanamaki [alpha 2 139(HC1)Lys->Glu beta 2] in an American family with erythrocytosis.