rs779636222
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (ACAAACCT;ACAAACCT) | 0 | common in clinvar |
| Make rs779636222(-;-) |
| Make rs779636222(-;ACAAACCT) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 18 |
| Position | 62154539 |
| Gene | PIGN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs779636222 |
| dbSNP (classic) | rs779636222 |
| ClinGen | rs779636222 |
| ebi | rs779636222 |
| HLI | rs779636222 |
| Exac | rs779636222 |
| Gnomad | rs779636222 |
| Varsome | rs779636222 |
| LitVar | rs779636222 |
| Map | rs779636222 |
| PheGenI | rs779636222 |
| Biobank | rs779636222 |
| 1000 genomes | rs779636222 |
| hgdp | rs779636222 |
| ensembl | rs779636222 |
| geneview | rs779636222 |
| scholar | rs779636222 |
| rs779636222 | |
| pharmgkb | rs779636222 |
| gwascentral | rs779636222 |
| openSNP | rs779636222 |
| 23andMe | rs779636222 |
| SNPshot | rs779636222 |
| SNPdbe | rs779636222 |
| MSV3d | rs779636222 |
| GWAS Ctlg | rs779636222 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs779636222(-;-) |
| Alt | rs779636222(-;-) |
| Reference | Rs779636222(ACAAACCT;ACAAACCT) |
| Significance | Pathogenic |
| Disease | Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| Variation | info |
| Gene | PIGN |
| CLNDBN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000018.9:g.59821772_59821779delACAAACCT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000242057.1, |
