rs33935383
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33935383(C;T) |
| Make rs33935383(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225671 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33935383 |
| dbSNP (classic) | rs33935383 |
| ClinGen | rs33935383 |
| ebi | rs33935383 |
| HLI | rs33935383 |
| Exac | rs33935383 |
| Gnomad | rs33935383 |
| Varsome | rs33935383 |
| LitVar | rs33935383 |
| Map | rs33935383 |
| PheGenI | rs33935383 |
| Biobank | rs33935383 |
| 1000 genomes | rs33935383 |
| hgdp | rs33935383 |
| ensembl | rs33935383 |
| geneview | rs33935383 |
| scholar | rs33935383 |
| rs33935383 | |
| pharmgkb | rs33935383 |
| gwascentral | rs33935383 |
| openSNP | rs33935383 |
| 23andMe | rs33935383 |
| SNPshot | rs33935383 |
| SNPdbe | rs33935383 |
| MSV3d | rs33935383 |
| GWAS Ctlg | rs33935383 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33935383(A;A) rs33935383(T;T) |
| Alt | rs33935383(A;A) rs33935383(T;T) |
| Reference | Rs33935383(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN VILLEJUIF HEMOGLOBIN ERNZ |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN VILLEJUIF HEMOGLOBIN ERNZ |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246901G>A; NC_000011.9:g.5246901G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016637.2, RCV000016851.2, |
[PMID 2816924] Hemoglobin Villejuif [beta 123(H1) Thr----Ile]: a new variant found in coincidence with polycythemia vera.
[PMID 11300351] Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy.
[PMID 11186258] Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis.
