rs140772352
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs140772352(C;C) |
| Make rs140772352(C;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 55031184 |
| Gene | ALAS2, PAGE2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140772352 |
| dbSNP (classic) | rs140772352 |
| ClinGen | rs140772352 |
| ebi | rs140772352 |
| HLI | rs140772352 |
| Exac | rs140772352 |
| Gnomad | rs140772352 |
| Varsome | rs140772352 |
| LitVar | rs140772352 |
| Map | rs140772352 |
| PheGenI | rs140772352 |
| Biobank | rs140772352 |
| 1000 genomes | rs140772352 |
| hgdp | rs140772352 |
| ensembl | rs140772352 |
| geneview | rs140772352 |
| scholar | rs140772352 |
| rs140772352 | |
| pharmgkb | rs140772352 |
| gwascentral | rs140772352 |
| openSNP | rs140772352 |
| 23andMe | rs140772352 |
| SNPshot | rs140772352 |
| SNPdbe | rs140772352 |
| MSV3d | rs140772352 |
| GWAS Ctlg | rs140772352 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs140772352(C;C) |
| Alt | rs140772352(C;C) |
| Reference | Rs140772352(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary sideroblastic anemia not specified |
| Variation | info |
| Gene | ALAS2 |
| CLNDBN | Hereditary sideroblastic anemia not specified |
| Reversed | 0 |
| HGVS | NC_000023.10:g.55057617G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000011226.3, RCV000433066.1, |
