rs33935983
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs33935983(C;C) |
Make rs33935983(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226723 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs33935983 |
dbSNP (classic) | rs33935983 |
ClinGen | rs33935983 |
ebi | rs33935983 |
HLI | rs33935983 |
Exac | rs33935983 |
Gnomad | rs33935983 |
Varsome | rs33935983 |
LitVar | rs33935983 |
Map | rs33935983 |
PheGenI | rs33935983 |
Biobank | rs33935983 |
1000 genomes | rs33935983 |
hgdp | rs33935983 |
ensembl | rs33935983 |
geneview | rs33935983 |
scholar | rs33935983 |
rs33935983 | |
pharmgkb | rs33935983 |
gwascentral | rs33935983 |
openSNP | rs33935983 |
23andMe | rs33935983 |
SNPshot | rs33935983 |
SNPdbe | rs33935983 |
MSV3d | rs33935983 |
GWAS Ctlg | rs33935983 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs33935983(A;A) rs33935983(C;C) rs33935983(T;T) |
Alt | rs33935983(A;A) rs33935983(C;C) rs33935983(T;T) |
Reference | Rs33935983(G;G) |
Significance | Other |
Disease | HEMOGLOBIN HAMADAN HEMOGLOBIN POISSY |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN HAMADAN HEMOGLOBIN POISSY |
Reversed | 1 |
HGVS | NC_000011.9:g.5247953C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016369.3, RCV000016553.2, |
[PMID 1122305] Haemoglobin hamadan: alpha-2A beta-2 56 (D7) glycine yields arginine.
[PMID 6508871] Hemoglobin Hamadan or alpha 2 beta 256(D7)Gly----Arg in a Turkish family.
[PMID 17654074] Hb Leeds [beta56(D7)Gly-->Cys]: a new hemoglobin that aggravates anemia in a child with beta(0)-thalassemia trait.