rs757147440
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs757147440(A;G) |
| Make rs757147440(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 158656669 |
| Gene | SPTA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757147440 |
| dbSNP (classic) | rs757147440 |
| ClinGen | rs757147440 |
| ebi | rs757147440 |
| HLI | rs757147440 |
| Exac | rs757147440 |
| Gnomad | rs757147440 |
| Varsome | rs757147440 |
| LitVar | rs757147440 |
| Map | rs757147440 |
| PheGenI | rs757147440 |
| Biobank | rs757147440 |
| 1000 genomes | rs757147440 |
| hgdp | rs757147440 |
| ensembl | rs757147440 |
| geneview | rs757147440 |
| scholar | rs757147440 |
| rs757147440 | |
| pharmgkb | rs757147440 |
| gwascentral | rs757147440 |
| openSNP | rs757147440 |
| 23andMe | rs757147440 |
| SNPshot | rs757147440 |
| SNPdbe | rs757147440 |
| MSV3d | rs757147440 |
| GWAS Ctlg | rs757147440 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs757147440(C;C) rs757147440(G;G) |
| Alt | rs757147440(C;C) rs757147440(G;G) |
| Reference | Rs757147440(A;A) |
| Significance | Pathogenic |
| Disease | Hereditary pyropoikilocytosis |
| Variation | info |
| Gene | SPTA1 |
| CLNDBN | Hereditary pyropoikilocytosis |
| Reversed | 0 |
| HGVS | NC_000001.10:g.158626459A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013721.18, |
