rs35321913
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35321913(C;G) |
| Make rs35321913(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5250052 |
| Gene | HBG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35321913 |
| dbSNP (classic) | rs35321913 |
| ClinGen | rs35321913 |
| ebi | rs35321913 |
| HLI | rs35321913 |
| Exac | rs35321913 |
| Gnomad | rs35321913 |
| Varsome | rs35321913 |
| LitVar | rs35321913 |
| Map | rs35321913 |
| PheGenI | rs35321913 |
| Biobank | rs35321913 |
| 1000 genomes | rs35321913 |
| hgdp | rs35321913 |
| ensembl | rs35321913 |
| geneview | rs35321913 |
| scholar | rs35321913 |
| rs35321913 | |
| pharmgkb | rs35321913 |
| gwascentral | rs35321913 |
| openSNP | rs35321913 |
| 23andMe | rs35321913 |
| SNPshot | rs35321913 |
| SNPdbe | rs35321913 |
| MSV3d | rs35321913 |
| GWAS Ctlg | rs35321913 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35321913(G;G) |
| Alt | rs35321913(G;G) |
| Reference | Rs35321913(C;C) |
| Significance | Pathogenic |
| Disease | Fetal hemoglobin quantitative trait locus 1 |
| Variation | info |
| Gene | HBG1 |
| CLNDBN | Fetal hemoglobin quantitative trait locus 1 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5271282G>C |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016178.25, |
[PMID 2224140] The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C----G substitution at nucleotide -195 of the A gamma-globin gene.
