rs878853282
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAG;GAG) | 0 | common in clinvar |
Make rs878853282(-;-) |
Make rs878853282(-;GAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 109141466 |
Gene | FRRS1L |
is a | snp |
is | mentioned by |
dbSNP | rs878853282 |
dbSNP (classic) | rs878853282 |
ClinGen | rs878853282 |
ebi | rs878853282 |
HLI | rs878853282 |
Exac | rs878853282 |
Gnomad | rs878853282 |
Varsome | rs878853282 |
LitVar | rs878853282 |
Map | rs878853282 |
PheGenI | rs878853282 |
Biobank | rs878853282 |
1000 genomes | rs878853282 |
hgdp | rs878853282 |
ensembl | rs878853282 |
geneview | rs878853282 |
scholar | rs878853282 |
rs878853282 | |
pharmgkb | rs878853282 |
gwascentral | rs878853282 |
openSNP | rs878853282 |
23andMe | rs878853282 |
SNPshot | rs878853282 |
SNPdbe | rs878853282 |
MSV3d | rs878853282 |
GWAS Ctlg | rs878853282 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853282(-;-) |
Alt | rs878853282(-;-) |
Reference | Rs878853282(GAG;GAG) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy Chorea Progressive encephalopathy Seizures not provided |
Variation | info |
Gene | FRRS1L |
CLNDBN | Epileptic encephalopathy, early infantile, 37 Chorea Progressive encephalopathy Seizures not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.111903746_111903748delCTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000225276.2, RCV000239394.1, RCV000483198.1, |