rs769318035
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 5 | Familial Hypercholesterolemia |
| (C;G) | 5 | Familial Hypercholesterolemia |
| Make rs769318035(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11105425 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769318035 |
| dbSNP (classic) | rs769318035 |
| ClinGen | rs769318035 |
| ebi | rs769318035 |
| HLI | rs769318035 |
| Exac | rs769318035 |
| Gnomad | rs769318035 |
| Varsome | rs769318035 |
| LitVar | rs769318035 |
| Map | rs769318035 |
| PheGenI | rs769318035 |
| Biobank | rs769318035 |
| 1000 genomes | rs769318035 |
| hgdp | rs769318035 |
| ensembl | rs769318035 |
| geneview | rs769318035 |
| scholar | rs769318035 |
| rs769318035 | |
| pharmgkb | rs769318035 |
| gwascentral | rs769318035 |
| openSNP | rs769318035 |
| 23andMe | rs769318035 |
| SNPshot | rs769318035 |
| SNPdbe | rs769318035 |
| MSV3d | rs769318035 |
| GWAS Ctlg | rs769318035 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs769318035(A;A) rs769318035(G;G) rs769318035(T;T) |
| Alt | rs769318035(A;A) rs769318035(G;G) rs769318035(T;T) |
| Reference | Rs769318035(C;C) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not provided |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11216101C>A; NC_000019.9:g.11216101C>G |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000237782.1, RCV000238354.2, RCV000478384.1, |
