rs33965337
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33965337(A;A) |
| Make rs33965337(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5249463 |
| Gene | HBG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33965337 |
| dbSNP (classic) | rs33965337 |
| ClinGen | rs33965337 |
| ebi | rs33965337 |
| HLI | rs33965337 |
| Exac | rs33965337 |
| Gnomad | rs33965337 |
| Varsome | rs33965337 |
| LitVar | rs33965337 |
| Map | rs33965337 |
| PheGenI | rs33965337 |
| Biobank | rs33965337 |
| 1000 genomes | rs33965337 |
| hgdp | rs33965337 |
| ensembl | rs33965337 |
| geneview | rs33965337 |
| scholar | rs33965337 |
| rs33965337 | |
| pharmgkb | rs33965337 |
| gwascentral | rs33965337 |
| openSNP | rs33965337 |
| 23andMe | rs33965337 |
| SNPshot | rs33965337 |
| SNPdbe | rs33965337 |
| MSV3d | rs33965337 |
| GWAS Ctlg | rs33965337 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33965337(A;A) rs33965337(C;C) |
| Alt | rs33965337(A;A) rs33965337(C;C) |
| Reference | Rs33965337(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN F (XIN-SU) HEMOGLOBIN F (FOREST PARK) |
| Variation | info |
| Gene | HBG1 |
| CLNDBN | HEMOGLOBIN F (XIN-SU) HEMOGLOBIN F (FOREST PARK) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5270693C>G; NC_000011.9:g.5270693C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016168.1, RCV000016153.1, |
[PMID 2448269] Hb F-Xin-Su or A gamma I73(E17)Asp----His: a new slow-moving fetal hemoglobin variant.
[PMID 2416350] Hb F-Forest Park, a new A gamma variant with two amino acid substitutions, 75(E19)Ile----Thr and 73(E17)Asp----Asn, which can be identified in adults by gene-mapping analysis.
