rs35890959
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35890959(A;A) |
Make rs35890959(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226961 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35890959 |
dbSNP (classic) | rs35890959 |
ClinGen | rs35890959 |
ebi | rs35890959 |
HLI | rs35890959 |
Exac | rs35890959 |
Gnomad | rs35890959 |
Varsome | rs35890959 |
LitVar | rs35890959 |
Map | rs35890959 |
PheGenI | rs35890959 |
Biobank | rs35890959 |
1000 genomes | rs35890959 |
hgdp | rs35890959 |
ensembl | rs35890959 |
geneview | rs35890959 |
scholar | rs35890959 |
rs35890959 | |
pharmgkb | rs35890959 |
gwascentral | rs35890959 |
openSNP | rs35890959 |
23andMe | rs35890959 |
SNPshot | rs35890959 |
SNPdbe | rs35890959 |
MSV3d | rs35890959 |
GWAS Ctlg | rs35890959 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35890959(A;A) rs35890959(T;T) |
Alt | rs35890959(A;A) rs35890959(T;T) |
Reference | Rs35890959(G;G) |
Significance | Other |
Disease | HEMOGLOBIN OLYMPIA |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN OLYMPIA |
Reversed | 1 |
HGVS | NC_000011.9:g.5248191C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016533.3, |
[PMID 2599884] Hb Olympia [beta 20 (B2) Val----MeT] in a Swedish family.
[PMID 4683875] Hemoglobin olympia ( 20 valine leads to methionine): an electrophoretically silent variant associated with high oxygen affinity and erythrocytosis.
[PMID 6863429] Identification and quantitation of Hb Olympia [beta 20(B2)Val leads to Met] and Hb San Diego [beta 109(G11)Val leads to Met] by high-performance liquid chromatography.
[PMID 8891722] Abnormal hemoglobins with high oxygen affinity and erythrocytosis.