rs376207800
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;G) | 5 | Familial Hypercholesterolemia |
| (C;T) | 5 | Familial Hypercholesterolemia |
| Make rs376207800(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11100340 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376207800 |
| dbSNP (classic) | rs376207800 |
| ClinGen | rs376207800 |
| ebi | rs376207800 |
| HLI | rs376207800 |
| Exac | rs376207800 |
| Gnomad | rs376207800 |
| Varsome | rs376207800 |
| LitVar | rs376207800 |
| Map | rs376207800 |
| PheGenI | rs376207800 |
| Biobank | rs376207800 |
| 1000 genomes | rs376207800 |
| hgdp | rs376207800 |
| ensembl | rs376207800 |
| geneview | rs376207800 |
| scholar | rs376207800 |
| rs376207800 | |
| pharmgkb | rs376207800 |
| gwascentral | rs376207800 |
| openSNP | rs376207800 |
| 23andMe | rs376207800 |
| SNPshot | rs376207800 |
| SNPdbe | rs376207800 |
| MSV3d | rs376207800 |
| GWAS Ctlg | rs376207800 |
| Max Magnitude | 5 |
aka c.185C>T (p.Thr62Met)
This variant in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191
]
| ClinVar | |
|---|---|
| Risk | rs376207800(G;G) rs376207800(T;T) |
| Alt | rs376207800(G;G) rs376207800(T;T) |
| Reference | Rs376207800(C;C) |
| Significance | Other |
| Disease | Familial hypercholesterolemia Hypercholesterolaemia not provided not specified |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia Hypercholesterolaemia not provided not specified |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11211016C>G; NC_000019.9:g.11211016C>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000417304.1, RCV000148579.1, RCV000161951.1, RCV000211598.5, RCV000454406.1, |
