rs5929
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs5929(C;T) |
| Make rs5929(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11116124 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5929 |
| dbSNP (classic) | rs5929 |
| ClinGen | rs5929 |
| ebi | rs5929 |
| HLI | rs5929 |
| Exac | rs5929 |
| Gnomad | rs5929 |
| Varsome | rs5929 |
| LitVar | rs5929 |
| Map | rs5929 |
| PheGenI | rs5929 |
| Biobank | rs5929 |
| 1000 genomes | rs5929 |
| hgdp | rs5929 |
| ensembl | rs5929 |
| geneview | rs5929 |
| scholar | rs5929 |
| rs5929 | |
| pharmgkb | rs5929 |
| gwascentral | rs5929 |
| openSNP | rs5929 |
| 23andMe | rs5929 |
| SNPshot | rs5929 |
| SNPdbe | rs5929 |
| MSV3d | rs5929 |
| GWAS Ctlg | rs5929 |
| GMAF | 0.1235 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20308432
] Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry
[PMID 25234566] Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity
| ClinVar | |
|---|---|
| Risk | rs5929(T;T) |
| Alt | rs5929(T;T) |
| Reference | Rs5929(C;C) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not specified |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia not specified |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11226800C>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000238018.3, RCV000243017.2, |
