rs878853283
From SNPedia
					| Orientation | minus | 
| Stabilized | minus | 
| Geno | Mag | Summary | 
|---|---|---|
| (-;-) | 0 | common in clinvar | 
| Make rs878853283(-;A) | 
| Make rs878853283(A;A) | 
| Reference | GRCh38.p2 38.2/147 | 
| Chromosome | 9 | 
| Position | 109149675 | 
| Gene | FRRS1L | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs878853283 | 
| dbSNP (classic) | rs878853283 | 
| ClinGen | rs878853283 | 
| ebi | rs878853283 | 
| HLI | rs878853283 | 
| Exac | rs878853283 | 
| Gnomad | rs878853283 | 
| Varsome | rs878853283 | 
| LitVar | rs878853283 | 
| Map | rs878853283 | 
| PheGenI | rs878853283 | 
| Biobank | rs878853283 | 
| 1000 genomes | rs878853283 | 
| hgdp | rs878853283 | 
| ensembl | rs878853283 | 
| geneview | rs878853283 | 
| scholar | rs878853283 | 
| rs878853283 | |
| pharmgkb | rs878853283 | 
| gwascentral | rs878853283 | 
| openSNP | rs878853283 | 
| 23andMe | rs878853283 | 
| SNPshot | rs878853283 | 
| SNPdbe | rs878853283 | 
| MSV3d | rs878853283 | 
| GWAS Ctlg | rs878853283 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs878853283(A;A) | 
| Alt | rs878853283(A;A) | 
| Reference | Rs878853283(-;-) | 
| Significance | Pathogenic | 
| Disease | Epileptic encephalopathy Chorea Progressive encephalopathy Seizures | 
| Variation | info | 
| Gene | FRRS1L | 
| CLNDBN | Epileptic encephalopathy, early infantile, 37 Chorea Progressive encephalopathy Seizures | 
| Reversed | 1 | 
| HGVS | NC_000009.11:g.111911956dupT | 
| CLNSRC | OMIM Allelic Variant | 
| CLNACC | RCV000225128.2, RCV000239396.1, | 


