rs2228171
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2228171(A;A) |
| Make rs2228171(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 169196995 |
| Gene | LRP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228171 |
| dbSNP (classic) | rs2228171 |
| ClinGen | rs2228171 |
| ebi | rs2228171 |
| HLI | rs2228171 |
| Exac | rs2228171 |
| Gnomad | rs2228171 |
| Varsome | rs2228171 |
| LitVar | rs2228171 |
| Map | rs2228171 |
| PheGenI | rs2228171 |
| Biobank | rs2228171 |
| 1000 genomes | rs2228171 |
| hgdp | rs2228171 |
| ensembl | rs2228171 |
| geneview | rs2228171 |
| scholar | rs2228171 |
| rs2228171 | |
| pharmgkb | rs2228171 |
| gwascentral | rs2228171 |
| openSNP | rs2228171 |
| 23andMe | rs2228171 |
| SNPshot | rs2228171 |
| SNPdbe | rs2228171 |
| MSV3d | rs2228171 |
| GWAS Ctlg | rs2228171 |
| Merged from | Rs4668123 |
| GMAF | 0.3232 |
| Max Magnitude | 0 |
[PMID 23274376] Cisplatin-induced ototoxicity in pediatric solid tumors: the role of glutathione S-transferases and megalin genetic polymorphisms [PMID 17457342] Megalin genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin.
[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.
| ClinVar | |
|---|---|
| Risk | rs2228171(A;A) rs2228171(C;C) rs2228171(T;T) |
| Alt | rs2228171(A;A) rs2228171(C;C) rs2228171(T;T) |
| Reference | Rs2228171(G;G) |
| 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.170053505C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000117550.3, RCV000272307.1, |
