rs863931
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs863931(A;G) |
| Make rs863931(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 158642446 |
| Gene | SPTA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863931 |
| dbSNP (classic) | rs863931 |
| ClinGen | rs863931 |
| ebi | rs863931 |
| HLI | rs863931 |
| Exac | rs863931 |
| Gnomad | rs863931 |
| Varsome | rs863931 |
| LitVar | rs863931 |
| Map | rs863931 |
| PheGenI | rs863931 |
| Biobank | rs863931 |
| 1000 genomes | rs863931 |
| hgdp | rs863931 |
| ensembl | rs863931 |
| geneview | rs863931 |
| scholar | rs863931 |
| rs863931 | |
| pharmgkb | rs863931 |
| gwascentral | rs863931 |
| openSNP | rs863931 |
| 23andMe | rs863931 |
| SNPshot | rs863931 |
| SNPdbe | rs863931 |
| MSV3d | rs863931 |
| GWAS Ctlg | rs863931 |
| Merged from | Rs34131035 |
| GMAF | 0.376 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs863931(G;G) rs863931(T;T) |
| Alt | rs863931(G;G) rs863931(T;T) |
| Reference | Rs863931(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Spherocytosis Hereditary pyropoikilocytosis Elliptocytosis |
| Variation | info |
| Gene | SPTA1 |
| CLNDBN | not specified Spherocytosis, Recessive Hereditary pyropoikilocytosis Elliptocytosis |
| Reversed | 0 |
| HGVS | NC_000001.10:g.158612236A>G |
| CLNSRC | |
| CLNACC | RCV000244890.1, RCV000288918.1, RCV000325129.1, RCV000383306.1, |
