rs149806989
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs149806989(A;A) |
| Make rs149806989(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 92517968 |
| Gene | PEX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149806989 |
| dbSNP (classic) | rs149806989 |
| ClinGen | rs149806989 |
| ebi | rs149806989 |
| HLI | rs149806989 |
| Exac | rs149806989 |
| Gnomad | rs149806989 |
| Varsome | rs149806989 |
| LitVar | rs149806989 |
| Map | rs149806989 |
| PheGenI | rs149806989 |
| Biobank | rs149806989 |
| 1000 genomes | rs149806989 |
| hgdp | rs149806989 |
| ensembl | rs149806989 |
| geneview | rs149806989 |
| scholar | rs149806989 |
| rs149806989 | |
| pharmgkb | rs149806989 |
| gwascentral | rs149806989 |
| openSNP | rs149806989 |
| 23andMe | rs149806989 |
| SNPshot | rs149806989 |
| SNPdbe | rs149806989 |
| MSV3d | rs149806989 |
| GWAS Ctlg | rs149806989 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149806989(A;A) |
| Alt | rs149806989(A;A) |
| Reference | Rs149806989(G;G) |
| Significance | Pathogenic |
| Disease | Peroxisome biogenesis disorder 1B Zellweger syndrome |
| Variation | info |
| Gene | PEX1 |
| CLNDBN | Peroxisome biogenesis disorder 1B Zellweger syndrome |
| Reversed | 0 |
| HGVS | NC_000007.13:g.92147282G>A |
| CLNSRC | |
| CLNACC | RCV000409397.1, RCV000411910.1, |
