rs149712244
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs149712244(C;T) |
| Make rs149712244(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 22 |
| Position | 38116155 |
| Gene | PLA2G6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149712244 |
| dbSNP (classic) | rs149712244 |
| ClinGen | rs149712244 |
| ebi | rs149712244 |
| HLI | rs149712244 |
| Exac | rs149712244 |
| Gnomad | rs149712244 |
| Varsome | rs149712244 |
| LitVar | rs149712244 |
| Map | rs149712244 |
| PheGenI | rs149712244 |
| Biobank | rs149712244 |
| 1000 genomes | rs149712244 |
| hgdp | rs149712244 |
| ensembl | rs149712244 |
| geneview | rs149712244 |
| scholar | rs149712244 |
| rs149712244 | |
| pharmgkb | rs149712244 |
| gwascentral | rs149712244 |
| openSNP | rs149712244 |
| 23andMe | rs149712244 |
| SNPshot | rs149712244 |
| SNPdbe | rs149712244 |
| MSV3d | rs149712244 |
| GWAS Ctlg | rs149712244 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149712244(T;T) |
| Alt | rs149712244(T;T) |
| Reference | Rs149712244(C;C) |
| Significance | Pathogenic |
| Disease | Iron accumulation in brain not provided |
| Variation | info |
| Gene | PLA2G6 |
| CLNDBN | Iron accumulation in brain not provided |
| Reversed | 0 |
| HGVS | NC_000022.10:g.38512162C>T |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000147303.1, RCV000413569.1, |
