rs181195449
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs181195449(C;C) |
| Make rs181195449(C;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 121530929 |
| Gene | CLASP1, LOC107985942, RNU4ATAC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs181195449 |
| dbSNP (classic) | rs181195449 |
| ClinGen | rs181195449 |
| ebi | rs181195449 |
| HLI | rs181195449 |
| Exac | rs181195449 |
| Gnomad | rs181195449 |
| Varsome | rs181195449 |
| LitVar | rs181195449 |
| Map | rs181195449 |
| PheGenI | rs181195449 |
| Biobank | rs181195449 |
| 1000 genomes | rs181195449 |
| hgdp | rs181195449 |
| ensembl | rs181195449 |
| geneview | rs181195449 |
| scholar | rs181195449 |
| rs181195449 | |
| pharmgkb | rs181195449 |
| gwascentral | rs181195449 |
| openSNP | rs181195449 |
| 23andMe | rs181195449 |
| SNPshot | rs181195449 |
| SNPdbe | rs181195449 |
| MSV3d | rs181195449 |
| GWAS Ctlg | rs181195449 |
| 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 | rs181195449(A;A) rs181195449(C;C) |
| Alt | rs181195449(A;A) rs181195449(C;C) |
| Reference | Rs181195449(G;G) |
| Significance | Pathogenic |
| Disease | Osteodysplastic primordial dwarfism |
| Variation | info |
| Gene | CLASP1 RNU4ATAC |
| CLNDBN | Osteodysplastic primordial dwarfism, type 1 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.122288505G>A; NC_000002.11:g.122288505G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023102.4, RCV000023100.4, |
