rs56361140
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs56361140(C;T) |
| Make rs56361140(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44260441 |
| Gene | SLC4A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56361140 |
| dbSNP (classic) | rs56361140 |
| ClinGen | rs56361140 |
| ebi | rs56361140 |
| HLI | rs56361140 |
| Exac | rs56361140 |
| Gnomad | rs56361140 |
| Varsome | rs56361140 |
| LitVar | rs56361140 |
| Map | rs56361140 |
| PheGenI | rs56361140 |
| Biobank | rs56361140 |
| 1000 genomes | rs56361140 |
| hgdp | rs56361140 |
| ensembl | rs56361140 |
| geneview | rs56361140 |
| scholar | rs56361140 |
| rs56361140 | |
| pharmgkb | rs56361140 |
| gwascentral | rs56361140 |
| openSNP | rs56361140 |
| 23andMe | rs56361140 |
| SNPshot | rs56361140 |
| SNPdbe | rs56361140 |
| MSV3d | rs56361140 |
| GWAS Ctlg | rs56361140 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs56361140(A;A) rs56361140(G;G) rs56361140(T;T) |
| Alt | rs56361140(A;A) rs56361140(G;G) rs56361140(T;T) |
| Reference | Rs56361140(C;C) |
| Significance | Pathogenic |
| Disease | Spherocytosis type 4 |
| Variation | info |
| Gene | SLC4A1 |
| CLNDBN | Spherocytosis type 4 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.42337809G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019339.29, |
