rs41322954
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs41322954(A;C) |
| Make rs41322954(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177125 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41322954 |
| dbSNP (classic) | rs41322954 |
| ClinGen | rs41322954 |
| ebi | rs41322954 |
| HLI | rs41322954 |
| Exac | rs41322954 |
| Gnomad | rs41322954 |
| Varsome | rs41322954 |
| LitVar | rs41322954 |
| Map | rs41322954 |
| PheGenI | rs41322954 |
| Biobank | rs41322954 |
| 1000 genomes | rs41322954 |
| hgdp | rs41322954 |
| ensembl | rs41322954 |
| geneview | rs41322954 |
| scholar | rs41322954 |
| rs41322954 | |
| pharmgkb | rs41322954 |
| gwascentral | rs41322954 |
| openSNP | rs41322954 |
| 23andMe | rs41322954 |
| SNPshot | rs41322954 |
| SNPdbe | rs41322954 |
| MSV3d | rs41322954 |
| GWAS Ctlg | rs41322954 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41322954(C;C) |
| Alt | rs41322954(C;C) |
| Reference | Rs41322954(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN FUCHU-II |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN FUCHU-II |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227124A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017216.2, |
[PMID 8718697] Two new alpha chain variants: Hb Fuchu-I [alpha 72(EF1)His-->Tyr] and Hb Fuchu-II [alpha 97(G4)Asn-->His].
