rs3131713
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs3131713(A;A) |
| Make rs3131713(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 20645555 |
| Gene | PINK1, PINK1-AS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3131713 |
| dbSNP (classic) | rs3131713 |
| ClinGen | rs3131713 |
| ebi | rs3131713 |
| HLI | rs3131713 |
| Exac | rs3131713 |
| Gnomad | rs3131713 |
| Varsome | rs3131713 |
| LitVar | rs3131713 |
| Map | rs3131713 |
| PheGenI | rs3131713 |
| Biobank | rs3131713 |
| 1000 genomes | rs3131713 |
| hgdp | rs3131713 |
| ensembl | rs3131713 |
| geneview | rs3131713 |
| scholar | rs3131713 |
| rs3131713 | |
| pharmgkb | rs3131713 |
| gwascentral | rs3131713 |
| openSNP | rs3131713 |
| 23andMe | rs3131713 |
| SNPshot | rs3131713 |
| SNPdbe | rs3131713 |
| MSV3d | rs3131713 |
| GWAS Ctlg | rs3131713 |
| GMAF | 0.1745 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
This SNP may be related to obesity and diabetes.
Genomic variants at the PINK1 locus are associated with transcript abundance and plasma nonesterified fatty acid concentrations in European whites. Near perfect linkage disequilibrium with rs622525. G allele is a proxy for rs622525(T) which is associated with higher PINK1 transcript levels.[PMID 18495756]
| ClinVar | |
|---|---|
| Risk | rs3131713(A;A) |
| Alt | rs3131713(A;A) |
| Reference | Rs3131713(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Parkinson Disease |
| Variation | info |
| Gene | PINK1-AS PINK1 |
| CLNDBN | not specified Parkinson Disease, Recessive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.20972048G>A |
| CLNSRC | |
| CLNACC | RCV000244222.1, RCV000286413.1, |
