rs33944813
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs33944813(A;T) |
Make rs33944813(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177102 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs33944813 |
dbSNP (classic) | rs33944813 |
ClinGen | rs33944813 |
ebi | rs33944813 |
HLI | rs33944813 |
Exac | rs33944813 |
Gnomad | rs33944813 |
Varsome | rs33944813 |
LitVar | rs33944813 |
Map | rs33944813 |
PheGenI | rs33944813 |
Biobank | rs33944813 |
1000 genomes | rs33944813 |
hgdp | rs33944813 |
ensembl | rs33944813 |
geneview | rs33944813 |
scholar | rs33944813 |
rs33944813 | |
pharmgkb | rs33944813 |
gwascentral | rs33944813 |
openSNP | rs33944813 |
23andMe | rs33944813 |
SNPshot | rs33944813 |
SNPdbe | rs33944813 |
MSV3d | rs33944813 |
GWAS Ctlg | rs33944813 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33944813(C;C) rs33944813(G;G) rs33944813(T;T) |
Alt | rs33944813(C;C) rs33944813(G;G) rs33944813(T;T) |
Reference | Rs33944813(A;A) |
Significance | Other |
Disease | HEMOGLOBIN TOKYO HEMOGLOBIN TAMANO HEMOGLOBIN LUTON |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN TOKYO HEMOGLOBIN TAMANO HEMOGLOBIN LUTON |
Reversed | 0 |
HGVS | NC_000016.9:g.227101A>C; NC_000016.9:g.227101A>G; NC_000016.9:g.227101A>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000017233.2, RCV000017234.2, RCV000017192.2, |
[PMID 1486044] Polycythaemia and microcytosis arising from the combination of a new high oxygen affinity haemoglobin (Hb luton, alpha 89 His-->Leu) and alpha thalassaemia trait.