rs137853962
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137853962(C;T) |
| Make rs137853962(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11120121 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853962 |
| dbSNP (classic) | rs137853962 |
| ClinGen | rs137853962 |
| ebi | rs137853962 |
| HLI | rs137853962 |
| Exac | rs137853962 |
| Gnomad | rs137853962 |
| Varsome | rs137853962 |
| LitVar | rs137853962 |
| Map | rs137853962 |
| PheGenI | rs137853962 |
| Biobank | rs137853962 |
| 1000 genomes | rs137853962 |
| hgdp | rs137853962 |
| ensembl | rs137853962 |
| geneview | rs137853962 |
| scholar | rs137853962 |
| rs137853962 | |
| pharmgkb | rs137853962 |
| gwascentral | rs137853962 |
| openSNP | rs137853962 |
| 23andMe | rs137853962 |
| SNPshot | rs137853962 |
| SNPdbe | rs137853962 |
| MSV3d | rs137853962 |
| GWAS Ctlg | rs137853962 |
| Max Magnitude | 0 |
rs137853962, a SNP in the low density lipoprotein receptor LDLR gene that is also known as N625N, is being studied in NIH ClinSeq program. [PMID 19602640
]
| ClinVar | |
|---|---|
| Risk | rs137853962(T;T) |
| Alt | rs137853962(T;T) |
| Reference | Rs137853962(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not provided Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | not provided Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11230797C>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000058920.1, RCV000210227.3, |
