rs863225423
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs863225423(C;C) |
| Make rs863225423(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 121530997 |
| Gene | CLASP1, LOC107985942, RNU4ATAC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863225423 |
| dbSNP (classic) | rs863225423 |
| ClinGen | rs863225423 |
| ebi | rs863225423 |
| HLI | rs863225423 |
| Exac | rs863225423 |
| Gnomad | rs863225423 |
| Varsome | rs863225423 |
| LitVar | rs863225423 |
| Map | rs863225423 |
| PheGenI | rs863225423 |
| Biobank | rs863225423 |
| 1000 genomes | rs863225423 |
| hgdp | rs863225423 |
| ensembl | rs863225423 |
| geneview | rs863225423 |
| scholar | rs863225423 |
| rs863225423 | |
| pharmgkb | rs863225423 |
| gwascentral | rs863225423 |
| openSNP | rs863225423 |
| 23andMe | rs863225423 |
| SNPshot | rs863225423 |
| SNPdbe | rs863225423 |
| MSV3d | rs863225423 |
| GWAS Ctlg | rs863225423 |
| 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 | rs863225423(C;C) |
| Alt | rs863225423(C;C) |
| Reference | Rs863225423(T;T) |
| Significance | Pathogenic |
| Disease | Roifman syndrome |
| Variation | info |
| Gene | CLASP1 RNU4ATAC |
| CLNDBN | Roifman syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.122288573T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000202310.2, |
