rs35617911
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs35617911(C;G) |
| Make rs35617911(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5254983 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35617911 |
| dbSNP (classic) | rs35617911 |
| ClinGen | rs35617911 |
| ebi | rs35617911 |
| HLI | rs35617911 |
| Exac | rs35617911 |
| Gnomad | rs35617911 |
| Varsome | rs35617911 |
| LitVar | rs35617911 |
| Map | rs35617911 |
| PheGenI | rs35617911 |
| Biobank | rs35617911 |
| 1000 genomes | rs35617911 |
| hgdp | rs35617911 |
| ensembl | rs35617911 |
| geneview | rs35617911 |
| scholar | rs35617911 |
| rs35617911 | |
| pharmgkb | rs35617911 |
| gwascentral | rs35617911 |
| openSNP | rs35617911 |
| 23andMe | rs35617911 |
| SNPshot | rs35617911 |
| SNPdbe | rs35617911 |
| MSV3d | rs35617911 |
| GWAS Ctlg | rs35617911 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35617911(G;G) |
| Alt | rs35617911(G;G) |
| Reference | Rs35617911(C;C) |
| Significance | Pathogenic |
| Disease | Fetal hemoglobin quantitative trait locus 1 |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | Fetal hemoglobin quantitative trait locus 1 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5276213G>C |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016122.25, |
[PMID 1200028
] A G gamma type of the hereditary persistence of fetal hemoglobin with beta chain production in cis.
[PMID 6205403] G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene.
