rs41323248
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs41323248(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173229 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41323248 |
| dbSNP (classic) | rs41323248 |
| ClinGen | rs41323248 |
| ebi | rs41323248 |
| HLI | rs41323248 |
| Exac | rs41323248 |
| Gnomad | rs41323248 |
| Varsome | rs41323248 |
| LitVar | rs41323248 |
| Map | rs41323248 |
| PheGenI | rs41323248 |
| Biobank | rs41323248 |
| 1000 genomes | rs41323248 |
| hgdp | rs41323248 |
| ensembl | rs41323248 |
| geneview | rs41323248 |
| scholar | rs41323248 |
| rs41323248 | |
| pharmgkb | rs41323248 |
| gwascentral | rs41323248 |
| openSNP | rs41323248 |
| 23andMe | rs41323248 |
| SNPshot | rs41323248 |
| SNPdbe | rs41323248 |
| MSV3d | rs41323248 |
| GWAS Ctlg | rs41323248 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41323248(C;C) |
| Alt | rs41323248(C;C) |
| Reference | Rs41323248(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN DARTMOUTH |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN DARTMOUTH |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223228T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016955.2, |
[PMID 11791870] Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.
