rs863223318
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs863223318(A;A) |
| Make rs863223318(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 27100460 |
| Gene | ANKRD26 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863223318 |
| dbSNP (classic) | rs863223318 |
| ClinGen | rs863223318 |
| ebi | rs863223318 |
| HLI | rs863223318 |
| Exac | rs863223318 |
| Gnomad | rs863223318 |
| Varsome | rs863223318 |
| LitVar | rs863223318 |
| Map | rs863223318 |
| PheGenI | rs863223318 |
| Biobank | rs863223318 |
| 1000 genomes | rs863223318 |
| hgdp | rs863223318 |
| ensembl | rs863223318 |
| geneview | rs863223318 |
| scholar | rs863223318 |
| rs863223318 | |
| pharmgkb | rs863223318 |
| gwascentral | rs863223318 |
| openSNP | rs863223318 |
| 23andMe | rs863223318 |
| SNPshot | rs863223318 |
| SNPdbe | rs863223318 |
| MSV3d | rs863223318 |
| GWAS Ctlg | rs863223318 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs863223318(A;A) |
| Alt | rs863223318(A;A) |
| Reference | Rs863223318(G;G) |
| Significance | Pathogenic |
| Disease | Thrombocytopenia 2 |
| Variation | info |
| Gene | ANKRD26 |
| CLNDBN | Thrombocytopenia 2 |
| Reversed | 1 |
| HGVS | NC_000010.10:g.27389389C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023838.2, |
