rs368423516
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs368423516(C;T) |
| Make rs368423516(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 9 |
| Position | 127854364 |
| Gene | ENG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368423516 |
| dbSNP (classic) | rs368423516 |
| ClinGen | rs368423516 |
| ebi | rs368423516 |
| HLI | rs368423516 |
| Exac | rs368423516 |
| Gnomad | rs368423516 |
| Varsome | rs368423516 |
| LitVar | rs368423516 |
| Map | rs368423516 |
| PheGenI | rs368423516 |
| Biobank | rs368423516 |
| 1000 genomes | rs368423516 |
| hgdp | rs368423516 |
| ensembl | rs368423516 |
| geneview | rs368423516 |
| scholar | rs368423516 |
| rs368423516 | |
| pharmgkb | rs368423516 |
| gwascentral | rs368423516 |
| openSNP | rs368423516 |
| 23andMe | rs368423516 |
| SNPshot | rs368423516 |
| SNPdbe | rs368423516 |
| MSV3d | rs368423516 |
| GWAS Ctlg | rs368423516 |
| 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 | rs368423516(T;T) |
| Alt | rs368423516(T;T) |
| Reference | Rs368423516(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Osler hemorrhagic telangiectasia syndrome |
| Variation | info |
| Gene | ENG |
| CLNDBN | Osler hemorrhagic telangiectasia syndrome |
| Reversed | 0 |
| HGVS | NC_000009.11:g.130616643C>T |
| CLNSRC | |
| CLNACC | RCV000460114.1, |
