rs748300548
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 5 | Familial Hypercholesterolemia |
| Make rs748300548(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11110756 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748300548 |
| dbSNP (classic) | rs748300548 |
| ClinGen | rs748300548 |
| ebi | rs748300548 |
| HLI | rs748300548 |
| Exac | rs748300548 |
| Gnomad | rs748300548 |
| Varsome | rs748300548 |
| LitVar | rs748300548 |
| Map | rs748300548 |
| PheGenI | rs748300548 |
| Biobank | rs748300548 |
| 1000 genomes | rs748300548 |
| hgdp | rs748300548 |
| ensembl | rs748300548 |
| geneview | rs748300548 |
| scholar | rs748300548 |
| rs748300548 | |
| pharmgkb | rs748300548 |
| gwascentral | rs748300548 |
| openSNP | rs748300548 |
| 23andMe | rs748300548 |
| SNPshot | rs748300548 |
| SNPdbe | rs748300548 |
| MSV3d | rs748300548 |
| GWAS Ctlg | rs748300548 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs748300548(T;T) |
| Alt | rs748300548(T;T) |
| Reference | Rs748300548(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11221432C>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000237544.1, |
