rs878853280
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878853280(C;T) |
Make rs878853280(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 109137529 |
Gene | FRRS1L |
is a | snp |
is | mentioned by |
dbSNP | rs878853280 |
dbSNP (classic) | rs878853280 |
ClinGen | rs878853280 |
ebi | rs878853280 |
HLI | rs878853280 |
Exac | rs878853280 |
Gnomad | rs878853280 |
Varsome | rs878853280 |
LitVar | rs878853280 |
Map | rs878853280 |
PheGenI | rs878853280 |
Biobank | rs878853280 |
1000 genomes | rs878853280 |
hgdp | rs878853280 |
ensembl | rs878853280 |
geneview | rs878853280 |
scholar | rs878853280 |
rs878853280 | |
pharmgkb | rs878853280 |
gwascentral | rs878853280 |
openSNP | rs878853280 |
23andMe | rs878853280 |
SNPshot | rs878853280 |
SNPdbe | rs878853280 |
MSV3d | rs878853280 |
GWAS Ctlg | rs878853280 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853280(T;T) |
Alt | rs878853280(T;T) |
Reference | Rs878853280(C;C) |
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.111899809G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000225353.2, RCV000239395.1, |