rs952094
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs952094(A;G) |
| Make rs952094(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 158614301 |
| Gene | SPTA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs952094 |
| dbSNP (classic) | rs952094 |
| ClinGen | rs952094 |
| ebi | rs952094 |
| HLI | rs952094 |
| Exac | rs952094 |
| Gnomad | rs952094 |
| Varsome | rs952094 |
| LitVar | rs952094 |
| Map | rs952094 |
| PheGenI | rs952094 |
| Biobank | rs952094 |
| 1000 genomes | rs952094 |
| hgdp | rs952094 |
| ensembl | rs952094 |
| geneview | rs952094 |
| scholar | rs952094 |
| rs952094 | |
| pharmgkb | rs952094 |
| gwascentral | rs952094 |
| openSNP | rs952094 |
| 23andMe | rs952094 |
| SNPshot | rs952094 |
| SNPdbe | rs952094 |
| MSV3d | rs952094 |
| GWAS Ctlg | rs952094 |
| GMAF | 0.4504 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs952094(G;G) |
| Alt | rs952094(G;G) |
| Reference | Rs952094(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Hereditary pyropoikilocytosis Elliptocytosis Spherocytosis |
| Variation | info |
| Gene | SPTA1 |
| CLNDBN | not specified Hereditary pyropoikilocytosis Elliptocytosis Spherocytosis, Recessive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.158584091A>G |
| CLNSRC | |
| CLNACC | RCV000248352.1, RCV000269117.1, RCV000313584.1, RCV000363626.1, |
