rs35939489
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs35939489(A;C) |
Make rs35939489(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226692 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35939489 |
dbSNP (classic) | rs35939489 |
ClinGen | rs35939489 |
ebi | rs35939489 |
HLI | rs35939489 |
Exac | rs35939489 |
Gnomad | rs35939489 |
Varsome | rs35939489 |
LitVar | rs35939489 |
Map | rs35939489 |
PheGenI | rs35939489 |
Biobank | rs35939489 |
1000 genomes | rs35939489 |
hgdp | rs35939489 |
ensembl | rs35939489 |
geneview | rs35939489 |
scholar | rs35939489 |
rs35939489 | |
pharmgkb | rs35939489 |
gwascentral | rs35939489 |
openSNP | rs35939489 |
23andMe | rs35939489 |
SNPshot | rs35939489 |
SNPdbe | rs35939489 |
MSV3d | rs35939489 |
GWAS Ctlg | rs35939489 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35939489(C;C) |
Alt | rs35939489(C;C) |
Reference | Rs35939489(A;A) |
Significance | Other |
Disease | HEMOGLOBIN CHICO |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN CHICO |
Reversed | 1 |
HGVS | NC_000011.9:g.5247922T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016299.2, |
[PMID 3429244] Hemoglobin Chico [beta 66(E10)Lys----Thr]: a new variant with decreased oxygen affinity.
[PMID 10085107] Altered ligand rebinding kinetics due to distal-side effects in hemoglobin chico (Lysbeta66(E10) --> thr).