rs141686314
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs141686314(C;T) |
| Make rs141686314(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 169764833 |
| Gene | TERC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141686314 |
| dbSNP (classic) | rs141686314 |
| ClinGen | rs141686314 |
| ebi | rs141686314 |
| HLI | rs141686314 |
| Exac | rs141686314 |
| Gnomad | rs141686314 |
| Varsome | rs141686314 |
| LitVar | rs141686314 |
| Map | rs141686314 |
| PheGenI | rs141686314 |
| Biobank | rs141686314 |
| 1000 genomes | rs141686314 |
| hgdp | rs141686314 |
| ensembl | rs141686314 |
| geneview | rs141686314 |
| scholar | rs141686314 |
| rs141686314 | |
| pharmgkb | rs141686314 |
| gwascentral | rs141686314 |
| openSNP | rs141686314 |
| 23andMe | rs141686314 |
| SNPshot | rs141686314 |
| SNPdbe | rs141686314 |
| MSV3d | rs141686314 |
| GWAS Ctlg | rs141686314 |
| GMAF | 0.003673 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs141686314(T;T) |
| Alt | rs141686314(T;T) |
| Reference | Rs141686314(C;C) |
| Significance | Other |
| Disease | Dyskeratosis congenita autosomal dominant not provided not specified |
| Variation | info |
| Gene | TERC |
| CLNDBN | Dyskeratosis congenita autosomal dominant not provided not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.169482621C>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032566.1, RCV000224681.1, RCV000436748.1, |
