rs28942084
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 5 | Familial Hypercholesterolemia |
| (C;C) | 0 | common in complete genomics |
| (C;T) | 5 | Familial Hypercholesterolemia |
| (T;T) | 2 | hypercholesterolemia risk; homozygote |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11120436 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942084 |
| dbSNP (classic) | rs28942084 |
| ClinGen | rs28942084 |
| ebi | rs28942084 |
| HLI | rs28942084 |
| Exac | rs28942084 |
| Gnomad | rs28942084 |
| Varsome | rs28942084 |
| LitVar | rs28942084 |
| Map | rs28942084 |
| PheGenI | rs28942084 |
| Biobank | rs28942084 |
| 1000 genomes | rs28942084 |
| hgdp | rs28942084 |
| ensembl | rs28942084 |
| geneview | rs28942084 |
| scholar | rs28942084 |
| rs28942084 | |
| pharmgkb | rs28942084 |
| gwascentral | rs28942084 |
| openSNP | rs28942084 |
| 23andMe | rs28942084 |
| SNPshot | rs28942084 |
| SNPdbe | rs28942084 |
| MSV3d | rs28942084 |
| GWAS Ctlg | rs28942084 |
| Max Magnitude | 5 |
rs28942084, also known as P685L or Pro664Leu, and as FH Zambia, is a SNP in the LDLR low density lipoprotein receptor gene. It has been associated with cases of familial hypercholesterolemia (FH). The risk allele is rs28942084(T).
| ClinVar | |
|---|---|
| Risk | Rs28942084(T;T) |
| Alt | Rs28942084(T;T) |
| Reference | Rs28942084(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.11231112C>T |
| CLNSRC | LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003891.10, RCV000162007.1, |
