rs33972894
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs33972894(G;T) |
Make rs33972894(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173555 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs33972894 |
dbSNP (classic) | rs33972894 |
ClinGen | rs33972894 |
ebi | rs33972894 |
HLI | rs33972894 |
Exac | rs33972894 |
Gnomad | rs33972894 |
Varsome | rs33972894 |
LitVar | rs33972894 |
Map | rs33972894 |
PheGenI | rs33972894 |
Biobank | rs33972894 |
1000 genomes | rs33972894 |
hgdp | rs33972894 |
ensembl | rs33972894 |
geneview | rs33972894 |
scholar | rs33972894 |
rs33972894 | |
pharmgkb | rs33972894 |
gwascentral | rs33972894 |
openSNP | rs33972894 |
23andMe | rs33972894 |
SNPshot | rs33972894 |
SNPdbe | rs33972894 |
MSV3d | rs33972894 |
GWAS Ctlg | rs33972894 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33972894(C;C) rs33972894(T;T) |
Alt | rs33972894(C;C) rs33972894(T;T) |
Reference | Rs33972894(G;G) |
Significance | Untested |
Disease | |
Variation | info |
Gene | HBA2 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.223554G>C; NC_000016.9:g.223554G>T |
CLNSRC | |
CLNACC |
[PMID 949045] Hemoglobin Jackson, alpha 127 (H10) Lys replaced by Asn.
[PMID 6655018] Identification of the alpha chain abnormal hemoglobin Jackson (alpha 127 Lys leads to Asn) after isolation of the core peptide by high-performance liquid chromatography.