rs41417548
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Alpha-thalassemia allele carrier |
| (G;G) | 0 | common in complete genomics |
| Make rs41417548(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173485 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41417548 |
| dbSNP (classic) | rs41417548 |
| ClinGen | rs41417548 |
| ebi | rs41417548 |
| HLI | rs41417548 |
| Exac | rs41417548 |
| Gnomad | rs41417548 |
| Varsome | rs41417548 |
| LitVar | rs41417548 |
| Map | rs41417548 |
| PheGenI | rs41417548 |
| Biobank | rs41417548 |
| 1000 genomes | rs41417548 |
| hgdp | rs41417548 |
| ensembl | rs41417548 |
| geneview | rs41417548 |
| scholar | rs41417548 |
| rs41417548 | |
| pharmgkb | rs41417548 |
| gwascentral | rs41417548 |
| openSNP | rs41417548 |
| 23andMe | rs41417548 |
| SNPshot | rs41417548 |
| SNPdbe | rs41417548 |
| MSV3d | rs41417548 |
| GWAS Ctlg | rs41417548 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41417548(A;A) |
| Alt | rs41417548(A;A) |
| Reference | Rs41417548(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN SALLANCHES Hemoglobin H disease |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN SALLANCHES Hemoglobin H disease, nondeletional |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223484G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016942.1, RCV000022606.4, |
[PMID 8555062] A new alpha chain variant Hb Sallanches [alpha 2 104(G11) Cys-->Tyr] associated with HbH disease in one homozygous patient.
[PMID 10722113] Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family.
[PMID 11186268] Homozygous Hb Sallanches [alpha104(G11)Cys-->Tyr] in a Pakistani child with Hb H disease.
[PMID 16840231] Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC-->TAC (alpha2)]: an unstable hemoglobin variant found in an Indian child.
[PMID 20113287] Hb H disease due to homozygosity for a rare alpha2-globin variant, Hb Sallanches.
