rs35948326
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | uncertain significance; may be associated with spherocytosis |
| (A;C) | 1 | uncertain significance; may be associated with spherocytosis |
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 158654738 |
| Gene | SPTA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35948326 |
| dbSNP (classic) | rs35948326 |
| ClinGen | rs35948326 |
| ebi | rs35948326 |
| HLI | rs35948326 |
| Exac | rs35948326 |
| Gnomad | rs35948326 |
| Varsome | rs35948326 |
| LitVar | rs35948326 |
| Map | rs35948326 |
| PheGenI | rs35948326 |
| Biobank | rs35948326 |
| 1000 genomes | rs35948326 |
| hgdp | rs35948326 |
| ensembl | rs35948326 |
| geneview | rs35948326 |
| scholar | rs35948326 |
| rs35948326 | |
| pharmgkb | rs35948326 |
| gwascentral | rs35948326 |
| openSNP | rs35948326 |
| 23andMe | rs35948326 |
| SNPshot | rs35948326 |
| SNPdbe | rs35948326 |
| MSV3d | rs35948326 |
| GWAS Ctlg | rs35948326 |
| GMAF | 0.01653 |
| Max Magnitude | 1 |
rs35948326, also known as c.2909C>A, p.Ala970Asp, A970D and alpha-IIa, represents a variant in the SPTA1 gene on chromosome 1.
Although reported as associated with autosomal recessive spherocytosis, the rs35948326(A) allele (as reported in dbSNP orientation) may actually be more of a proxy for a truly defective variant that is co-inherited as a result of linkage. That variant is known as alpha-LEPRA.
| ClinVar | |
|---|---|
| Risk | Rs35948326(A;A) |
| Alt | Rs35948326(A;A) |
| Reference | Rs35948326(C;C) |
| Significance | Other |
| Disease | Spherocytosis not specified |
| Variation | info |
| Gene | SPTA1 |
| CLNDBN | Spherocytosis, type 3, autosomal recessive not specified Spherocytosis, Recessive |
| Reversed | 1 |
| HGVS | NC_000001.10:g.158624528G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013699.24, RCV000251633.1, RCV000315888.1, |
