rs33948578
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs33948578(G;G) |
Make rs33948578(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226794 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33948578 |
dbSNP (classic) | rs33948578 |
ClinGen | rs33948578 |
ebi | rs33948578 |
HLI | rs33948578 |
Exac | rs33948578 |
Gnomad | rs33948578 |
Varsome | rs33948578 |
LitVar | rs33948578 |
Map | rs33948578 |
PheGenI | rs33948578 |
Biobank | rs33948578 |
1000 genomes | rs33948578 |
hgdp | rs33948578 |
ensembl | rs33948578 |
geneview | rs33948578 |
scholar | rs33948578 |
rs33948578 | |
pharmgkb | rs33948578 |
gwascentral | rs33948578 |
openSNP | rs33948578 |
23andMe | rs33948578 |
SNPshot | rs33948578 |
SNPdbe | rs33948578 |
MSV3d | rs33948578 |
GWAS Ctlg | rs33948578 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33948578(A;A) rs33948578(C;C) rs33948578(G;G) |
Alt | rs33948578(A;A) rs33948578(C;C) rs33948578(G;G) |
Reference | Rs33948578(T;T) |
Significance | Other |
Disease | HEMOGLOBIN CASTILLA HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN HEMOGLOBIN KOBE HEMOGLOBIN MEDICINE LAKE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN CASTILLA HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN HEMOGLOBIN KOBE HEMOGLOBIN MEDICINE LAKE |
Reversed | 1 |
HGVS | NC_000011.9:g.5248024A>C; NC_000011.9:g.5248024A>G; NC_000011.9:g.5248024A>T |
CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016295.2, RCV000016546.2, RCV000016547.2, RCV000016548.2, RCV000016807.2, |
[PMID 402773] Congenital Heinz body haemolytic anaemia due to haemoglobin Perth in a Nama child seemingly aggravated by the high nitrate content of the water supply.
[PMID 4127713] Haemoglobin Perth: beta-32 (B14) Leu leads to Pro, an unstable haemoglobin causing haemolysis.
[PMID 4352462] Hemoglobin Abraham Lincoln, beta32 (B14) leucine leads to proline. An unstable variant producing severe hemolytic disease.
[PMID 11939520] Unstable Hb Perth in a Taiwanese subject: a T-->C substitution at codon 32 of the beta-globin gene creates an MspI site.
[PMID 14649317] Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation.
[PMID 7660732] Morphohistochemical relationships between adrenal cortex and major salivary glands in response to chronic suramin treatment.