rs33959855
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33959855(C;C) |
| Make rs33959855(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226955 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33959855 |
| dbSNP (classic) | rs33959855 |
| ClinGen | rs33959855 |
| ebi | rs33959855 |
| HLI | rs33959855 |
| Exac | rs33959855 |
| Gnomad | rs33959855 |
| Varsome | rs33959855 |
| LitVar | rs33959855 |
| Map | rs33959855 |
| PheGenI | rs33959855 |
| Biobank | rs33959855 |
| 1000 genomes | rs33959855 |
| hgdp | rs33959855 |
| ensembl | rs33959855 |
| geneview | rs33959855 |
| scholar | rs33959855 |
| rs33959855 | |
| pharmgkb | rs33959855 |
| gwascentral | rs33959855 |
| openSNP | rs33959855 |
| 23andMe | rs33959855 |
| SNPshot | rs33959855 |
| SNPdbe | rs33959855 |
| MSV3d | rs33959855 |
| GWAS Ctlg | rs33959855 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33959855(A;A) rs33959855(C;C) rs33959855(T;T) |
| Alt | rs33959855(A;A) rs33959855(C;C) rs33959855(T;T) |
| Reference | Rs33959855(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN D (IRAN) HEMOGLOBIN E (SASKATOON) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN D (IRAN) HEMOGLOBIN E (SASKATOON) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248185C>G; NC_000011.9:g.5248185C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016314.4, RCV000016333.2, |
[PMID 939569] The occurrence of Hb E Saskatoon in Scotland.
[PMID 2283299] Compound heterozygosity for Hb E-Saskatoon or alpha 2 beta 2(22)(B4)Glu----Lys and beta-thalassemia type IVS-I-6 (T----C)
[PMID 8718699] The first case of Hb E-Saskatoon [alpha 2 beta(2)22(B4)Glu-->Lys] in a Japanese male in Asia.
[PMID 11791874] Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient.
[PMID 4715135] Haemoglobin D Iran: 2 22 glutamic acid leads to glutamine (B4).
[PMID 4725603] Hemoglobin D Iran alpha A2 beta 22 2-Glu leads to Gln in association with thalassemia.
[PMID 8195010] Hb D-Iran [beta 22(B4)Glu-->Gln] in southern Italy.
[PMID 1301930] A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms.
