rs200075782
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200075782(A;A) |
| Make rs200075782(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 38169318 |
| Gene | PLA2G6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200075782 |
| dbSNP (classic) | rs200075782 |
| ClinGen | rs200075782 |
| ebi | rs200075782 |
| HLI | rs200075782 |
| Exac | rs200075782 |
| Gnomad | rs200075782 |
| Varsome | rs200075782 |
| LitVar | rs200075782 |
| Map | rs200075782 |
| PheGenI | rs200075782 |
| Biobank | rs200075782 |
| 1000 genomes | rs200075782 |
| hgdp | rs200075782 |
| ensembl | rs200075782 |
| geneview | rs200075782 |
| scholar | rs200075782 |
| rs200075782 | |
| pharmgkb | rs200075782 |
| gwascentral | rs200075782 |
| openSNP | rs200075782 |
| 23andMe | rs200075782 |
| SNPshot | rs200075782 |
| SNPdbe | rs200075782 |
| MSV3d | rs200075782 |
| GWAS Ctlg | rs200075782 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200075782(A;A) |
| Alt | rs200075782(A;A) |
| Reference | Rs200075782(G;G) |
| Significance | Pathogenic |
| Disease | Infantile neuroaxonal dystrophy Iron accumulation in brain not provided |
| Variation | info |
| Gene | PLA2G6 |
| CLNDBN | Infantile neuroaxonal dystrophy Iron accumulation in brain not provided |
| Reversed | 0 |
| HGVS | NC_000022.10:g.38565325G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023318.4, RCV000147282.1, RCV000255026.1, |
