rs2075252
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2075252(A;G) |
| Make rs2075252(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 169154475 |
| Gene | LRP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2075252 |
| dbSNP (classic) | rs2075252 |
| ClinGen | rs2075252 |
| ebi | rs2075252 |
| HLI | rs2075252 |
| Exac | rs2075252 |
| Gnomad | rs2075252 |
| Varsome | rs2075252 |
| LitVar | rs2075252 |
| Map | rs2075252 |
| PheGenI | rs2075252 |
| Biobank | rs2075252 |
| 1000 genomes | rs2075252 |
| hgdp | rs2075252 |
| ensembl | rs2075252 |
| geneview | rs2075252 |
| scholar | rs2075252 |
| rs2075252 | |
| pharmgkb | rs2075252 |
| gwascentral | rs2075252 |
| openSNP | rs2075252 |
| 23andMe | rs2075252 |
| SNPshot | rs2075252 |
| SNPdbe | rs2075252 |
| MSV3d | rs2075252 |
| GWAS Ctlg | rs2075252 |
| GMAF | 0.258 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18559602
] Association of megalin genetic polymorphisms with prostate cancer risk and prognosis.
[PMID 22170372] Vitamin D receptor and megalin gene polymorphisms and their associations with longitudinal cognitive change in US adults.
[PMID 23274376] Cisplatin-induced ototoxicity in pediatric solid tumors: the role of glutathione S-transferases and megalin genetic polymorphisms
| ClinVar | |
|---|---|
| Risk | rs2075252(G;G) |
| Alt | rs2075252(G;G) |
| Reference | Rs2075252(A;A) |
| Significance | Other |
| Disease | not specified Donnai Barrow syndrome |
| Variation | info |
| Gene | LRP2 |
| CLNDBN | not specified Donnai Barrow syndrome |
| Reversed | 1 |
| HGVS | NC_000002.11:g.170010985T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000117508.3, RCV000310751.1, |
[PMID 31641537] The association of megalin and cubilin genetic variants with serum levels of 25-hydroxvitamin D and the incidence of acute coronary syndrome in Egyptians: A case control study.
