rs33950993
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33950993(C;T) |
| Make rs33950993(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226600 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33950993 |
| dbSNP (classic) | rs33950993 |
| ClinGen | rs33950993 |
| ebi | rs33950993 |
| HLI | rs33950993 |
| Exac | rs33950993 |
| Gnomad | rs33950993 |
| Varsome | rs33950993 |
| LitVar | rs33950993 |
| Map | rs33950993 |
| PheGenI | rs33950993 |
| Biobank | rs33950993 |
| 1000 genomes | rs33950993 |
| hgdp | rs33950993 |
| ensembl | rs33950993 |
| geneview | rs33950993 |
| scholar | rs33950993 |
| rs33950993 | |
| pharmgkb | rs33950993 |
| gwascentral | rs33950993 |
| openSNP | rs33950993 |
| 23andMe | rs33950993 |
| SNPshot | rs33950993 |
| SNPdbe | rs33950993 |
| MSV3d | rs33950993 |
| GWAS Ctlg | rs33950993 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33950993(A;A) rs33950993(T;T) |
| Alt | rs33950993(A;A) rs33950993(T;T) |
| Reference | Rs33950993(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN MORIGUCHI HEMOGLOBIN SANTA CLARA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN MORIGUCHI HEMOGLOBIN SANTA CLARA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247830G>A; NC_000011.9:g.5247830G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016500.2, RCV000016874.2, |
[PMID 2775360] Hb Moriguchi or alpha 2 beta 2(97) (FG4)His---Tyr substitution at the alpha 1-beta 2 interface.
[PMID 14649314] Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val].
