rs540289812
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs540289812(C;C) |
| Make rs540289812(C;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 3 |
| Position | 169765159 |
| Gene | TERC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs540289812 |
| dbSNP (classic) | rs540289812 |
| ClinGen | rs540289812 |
| ebi | rs540289812 |
| HLI | rs540289812 |
| Exac | rs540289812 |
| Gnomad | rs540289812 |
| Varsome | rs540289812 |
| LitVar | rs540289812 |
| Map | rs540289812 |
| PheGenI | rs540289812 |
| Biobank | rs540289812 |
| 1000 genomes | rs540289812 |
| hgdp | rs540289812 |
| ensembl | rs540289812 |
| geneview | rs540289812 |
| scholar | rs540289812 |
| rs540289812 | |
| pharmgkb | rs540289812 |
| gwascentral | rs540289812 |
| openSNP | rs540289812 |
| 23andMe | rs540289812 |
| SNPshot | rs540289812 |
| SNPdbe | rs540289812 |
| MSV3d | rs540289812 |
| GWAS Ctlg | rs540289812 |
| 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 | rs540289812(C;C) |
| Alt | rs540289812(C;C) |
| Reference | Rs540289812(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Dyskeratosis congenita autosomal dominant |
| Variation | info |
| Gene | TERC |
| CLNDBN | Dyskeratosis congenita autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000003.11:g.169482947G>C |
| CLNSRC | |
| CLNACC | RCV000226128.2, |
