rs386834037
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs386834037(A;A) |
| Make rs386834037(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 46194347 |
| Gene | POMGNT1, TSPAN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386834037 |
| dbSNP (classic) | rs386834037 |
| ClinGen | rs386834037 |
| ebi | rs386834037 |
| HLI | rs386834037 |
| Exac | rs386834037 |
| Gnomad | rs386834037 |
| Varsome | rs386834037 |
| LitVar | rs386834037 |
| Map | rs386834037 |
| PheGenI | rs386834037 |
| Biobank | rs386834037 |
| 1000 genomes | rs386834037 |
| hgdp | rs386834037 |
| ensembl | rs386834037 |
| geneview | rs386834037 |
| scholar | rs386834037 |
| rs386834037 | |
| pharmgkb | rs386834037 |
| gwascentral | rs386834037 |
| openSNP | rs386834037 |
| 23andMe | rs386834037 |
| SNPshot | rs386834037 |
| SNPdbe | rs386834037 |
| MSV3d | rs386834037 |
| GWAS Ctlg | rs386834037 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386834037(A;A) |
| Alt | rs386834037(A;A) |
| Reference | Rs386834037(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Muscle eye brain disease |
| Variation | info |
| Gene | POMGNT1 |
| CLNDBN | Muscle eye brain disease |
| Reversed | 1 |
| HGVS | NC_000001.10:g.46660019C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000050020.1, |
[PMID 12588800] Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
