rs5930
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs5930(A;G) |
| Make rs5930(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 11113589 |
| Gene | LDLR, MIR6886 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5930 |
| dbSNP (classic) | rs5930 |
| ClinGen | rs5930 |
| ebi | rs5930 |
| HLI | rs5930 |
| Exac | rs5930 |
| Gnomad | rs5930 |
| Varsome | rs5930 |
| LitVar | rs5930 |
| Map | rs5930 |
| PheGenI | rs5930 |
| Biobank | rs5930 |
| 1000 genomes | rs5930 |
| hgdp | rs5930 |
| ensembl | rs5930 |
| geneview | rs5930 |
| scholar | rs5930 |
| rs5930 | |
| pharmgkb | rs5930 |
| gwascentral | rs5930 |
| openSNP | rs5930 |
| 23andMe | rs5930 |
| SNPshot | rs5930 |
| SNPdbe | rs5930 |
| MSV3d | rs5930 |
| GWAS Ctlg | rs5930 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 25234566] Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity
| ClinVar | |
|---|---|
| Risk | rs5930(G;G) |
| Alt | rs5930(G;G) |
| Reference | Rs5930(A;A) |
| Significance | Other |
| Disease | not specified Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR MIR6886 |
| CLNDBN | not specified Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11224265A>G |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000182337.4, RCV000237328.3, |
