rs1003723
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1003723(C;T) |
| Make rs1003723(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11113505 |
| Gene | LDLR, MIR6886 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1003723 |
| dbSNP (classic) | rs1003723 |
| ClinGen | rs1003723 |
| ebi | rs1003723 |
| HLI | rs1003723 |
| Exac | rs1003723 |
| Gnomad | rs1003723 |
| Varsome | rs1003723 |
| LitVar | rs1003723 |
| Map | rs1003723 |
| PheGenI | rs1003723 |
| Biobank | rs1003723 |
| 1000 genomes | rs1003723 |
| hgdp | rs1003723 |
| ensembl | rs1003723 |
| geneview | rs1003723 |
| scholar | rs1003723 |
| rs1003723 | |
| pharmgkb | rs1003723 |
| gwascentral | rs1003723 |
| openSNP | rs1003723 |
| 23andMe | rs1003723 |
| SNPshot | rs1003723 |
| SNPdbe | rs1003723 |
| MSV3d | rs1003723 |
| GWAS Ctlg | rs1003723 |
| GMAF | 0.2819 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19888660
] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China
[PMID 18296645] Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.
[PMID 25234566] Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity
| ClinVar | |
|---|---|
| Risk | rs1003723(T;T) |
| Alt | rs1003723(T;T) |
| Reference | Rs1003723(C;C) |
| Significance | Non-pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR MIR6886 |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11224181C>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000237169.2, |
