rs111645889
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs111645889(C;C) |
Make rs111645889(C;T) |
Make rs111645889(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225653 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs111645889 |
dbSNP (classic) | rs111645889 |
ClinGen | rs111645889 |
ebi | rs111645889 |
HLI | rs111645889 |
Exac | rs111645889 |
Gnomad | rs111645889 |
Varsome | rs111645889 |
LitVar | rs111645889 |
Map | rs111645889 |
PheGenI | rs111645889 |
Biobank | rs111645889 |
1000 genomes | rs111645889 |
hgdp | rs111645889 |
ensembl | rs111645889 |
geneview | rs111645889 |
scholar | rs111645889 |
rs111645889 | |
pharmgkb | rs111645889 |
gwascentral | rs111645889 |
openSNP | rs111645889 |
23andMe | rs111645889 |
SNPshot | rs111645889 |
SNPdbe | rs111645889 |
MSV3d | rs111645889 |
GWAS Ctlg | rs111645889 |
Merged from | Rs33942582 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111645889(A;A) rs111645889(T;T) |
Alt | rs111645889(A;A) rs111645889(T;T) |
Reference | rs111645889(C;C) |
Significance | Other |
Disease | HEMOGLOBIN LA DESIRADE HEMOGLOBIN J (TAICHUNG) HEMOGLOBIN K (CAMEROON) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN LA DESIRADE HEMOGLOBIN J (TAICHUNG) HEMOGLOBIN K (CAMEROON) |
Reversed | 1 |
HGVS | NC_000011.9:g.5246883G>A; NC_000011.9:g.5246883G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016450.2, RCV000016426.2, RCV000016429.2, |
[PMID 5353125] Hemoglobin J Taichung:beta-129 ALA--ASP.
[PMID 3557994] Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala----Val: a new unstable hemoglobin.