rs879254367
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Familial Hypercholesterolemia |
| Make rs879254367(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 19 |
| Position | 11089397 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879254367 |
| dbSNP (classic) | rs879254367 |
| ClinGen | rs879254367 |
| ebi | rs879254367 |
| HLI | rs879254367 |
| Exac | rs879254367 |
| Gnomad | rs879254367 |
| Varsome | rs879254367 |
| LitVar | rs879254367 |
| Map | rs879254367 |
| PheGenI | rs879254367 |
| Biobank | rs879254367 |
| 1000 genomes | rs879254367 |
| hgdp | rs879254367 |
| ensembl | rs879254367 |
| geneview | rs879254367 |
| scholar | rs879254367 |
| rs879254367 | |
| pharmgkb | rs879254367 |
| gwascentral | rs879254367 |
| openSNP | rs879254367 |
| 23andMe | rs879254367 |
| SNPshot | rs879254367 |
| SNPdbe | rs879254367 |
| MSV3d | rs879254367 |
| GWAS Ctlg | rs879254367 |
| Max Magnitude | 5 |
[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 | rs879254367(T;T) |
| Alt | rs879254367(T;T) |
| Reference | Rs879254367(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11200073C>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000237330.1, |
