rs113669610
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 5 | Familial Hypercholesterolemia |
| (C;C) | 0 | common in clinvar |
| Make rs113669610(C;T) |
| Make rs113669610(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11111557 |
| Gene | LDLR, MIR6886 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113669610 |
| dbSNP (classic) | rs113669610 |
| ClinGen | rs113669610 |
| ebi | rs113669610 |
| HLI | rs113669610 |
| Exac | rs113669610 |
| Gnomad | rs113669610 |
| Varsome | rs113669610 |
| LitVar | rs113669610 |
| Map | rs113669610 |
| PheGenI | rs113669610 |
| Biobank | rs113669610 |
| 1000 genomes | rs113669610 |
| hgdp | rs113669610 |
| ensembl | rs113669610 |
| geneview | rs113669610 |
| scholar | rs113669610 |
| rs113669610 | |
| pharmgkb | rs113669610 |
| gwascentral | rs113669610 |
| openSNP | rs113669610 |
| 23andMe | rs113669610 |
| SNPshot | rs113669610 |
| SNPdbe | rs113669610 |
| MSV3d | rs113669610 |
| GWAS Ctlg | rs113669610 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs113669610(A;A) rs113669610(T;T) |
| Alt | rs113669610(A;A) rs113669610(T;T) |
| Reference | Rs113669610(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR MIR6886 |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11222233C>A |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000237222.1, |
