rs72470544
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs72470544(G;T) |
| Make rs72470544(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 74530427 |
| Gene | AUP1, HTRA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72470544 |
| dbSNP (classic) | rs72470544 |
| ClinGen | rs72470544 |
| ebi | rs72470544 |
| HLI | rs72470544 |
| Exac | rs72470544 |
| Gnomad | rs72470544 |
| Varsome | rs72470544 |
| LitVar | rs72470544 |
| Map | rs72470544 |
| PheGenI | rs72470544 |
| Biobank | rs72470544 |
| 1000 genomes | rs72470544 |
| hgdp | rs72470544 |
| ensembl | rs72470544 |
| geneview | rs72470544 |
| scholar | rs72470544 |
| rs72470544 | |
| pharmgkb | rs72470544 |
| gwascentral | rs72470544 |
| openSNP | rs72470544 |
| 23andMe | rs72470544 |
| SNPshot | rs72470544 |
| SNPdbe | rs72470544 |
| MSV3d | rs72470544 |
| GWAS Ctlg | rs72470544 |
| GMAF | 0.01561 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72470544(T;T) |
| Alt | rs72470544(T;T) |
| Reference | Rs72470544(G;G) |
| Significance | Other |
| Disease | Parkinson disease 13 Parkinson Disease |
| Variation | info |
| Gene | HTRA2 AUP1 |
| CLNDBN | Parkinson disease 13 Parkinson Disease, Dominant |
| Reversed | 0 |
| HGVS | NC_000002.11:g.74757554G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004590.4, RCV000350704.1, |
[PMID 18790661
] Genetic variation of Omi/HtrA2 and Parkinson's disease.
[PMID 20036034] A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease.
