rs33972975
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
(GG;GG) | 0 | common in clinvar |
Make rs33972975(C;C) |
Make rs33972975(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226949 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33972975 |
dbSNP (classic) | rs33972975 |
ClinGen | rs33972975 |
ebi | rs33972975 |
HLI | rs33972975 |
Exac | rs33972975 |
Gnomad | rs33972975 |
Varsome | rs33972975 |
LitVar | rs33972975 |
Map | rs33972975 |
PheGenI | rs33972975 |
Biobank | rs33972975 |
1000 genomes | rs33972975 |
hgdp | rs33972975 |
ensembl | rs33972975 |
geneview | rs33972975 |
scholar | rs33972975 |
rs33972975 | |
pharmgkb | rs33972975 |
gwascentral | rs33972975 |
openSNP | rs33972975 |
23andMe | rs33972975 |
SNPshot | rs33972975 |
SNPdbe | rs33972975 |
MSV3d | rs33972975 |
GWAS Ctlg | rs33972975 |
Merged from | Rs121909817 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33972975(C;C) |
Alt | rs33972975(C;C) |
Reference | Rs33972975(G;G) |
Significance | Other |
Disease | HEMOGLOBIN RIVERDALE-BRONX |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN RIVERDALE-BRONX |
Reversed | 1 |
HGVS | NC_000011.9:g.5248179C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016567.2, |
[PMID 4724601] Control of human hemoglobin synthesis: translation of globin chains in heterozygotes with hemoglobin Riverdale-Bronx.
[PMID 5458024] Globin chain synthesis in heterozygotes for beta chain mutations.
[PMID 5705748] Hemoglobin Riverdale-Bronx an unstable hemoglobin resulting from the substitution of arginine for glycine at helical residue B6 of the B beta polypeptide chain.