rs199422284
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199422284(C;G) |
| Make rs199422284(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 169764653 |
| Gene | TERC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199422284 |
| dbSNP (classic) | rs199422284 |
| ClinGen | rs199422284 |
| ebi | rs199422284 |
| HLI | rs199422284 |
| Exac | rs199422284 |
| Gnomad | rs199422284 |
| Varsome | rs199422284 |
| LitVar | rs199422284 |
| Map | rs199422284 |
| PheGenI | rs199422284 |
| Biobank | rs199422284 |
| 1000 genomes | rs199422284 |
| hgdp | rs199422284 |
| ensembl | rs199422284 |
| geneview | rs199422284 |
| scholar | rs199422284 |
| rs199422284 | |
| pharmgkb | rs199422284 |
| gwascentral | rs199422284 |
| openSNP | rs199422284 |
| 23andMe | rs199422284 |
| SNPshot | rs199422284 |
| SNPdbe | rs199422284 |
| MSV3d | rs199422284 |
| GWAS Ctlg | rs199422284 |
| 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 | rs199422284(A;A) rs199422284(G;G) |
| Alt | rs199422284(A;A) rs199422284(G;G) |
| Reference | Rs199422284(C;C) |
| Significance | Pathogenic |
| Disease | Dyskeratosis congenita autosomal dominant |
| Variation | info |
| Gene | TERC |
| CLNDBN | Dyskeratosis congenita autosomal dominant |
| Reversed | 1 |
| HGVS | NC_000003.11:g.169482441G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007744.3, |
