rs1057519310
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057519310(-;-) |
Make rs1057519310(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 9139724 |
Gene | DENND5A |
is a | snp |
is | mentioned by |
dbSNP | rs1057519310 |
dbSNP (classic) | rs1057519310 |
ClinGen | rs1057519310 |
ebi | rs1057519310 |
HLI | rs1057519310 |
Exac | rs1057519310 |
Gnomad | rs1057519310 |
Varsome | rs1057519310 |
LitVar | rs1057519310 |
Map | rs1057519310 |
PheGenI | rs1057519310 |
Biobank | rs1057519310 |
1000 genomes | rs1057519310 |
hgdp | rs1057519310 |
ensembl | rs1057519310 |
geneview | rs1057519310 |
scholar | rs1057519310 |
rs1057519310 | |
pharmgkb | rs1057519310 |
gwascentral | rs1057519310 |
openSNP | rs1057519310 |
23andMe | rs1057519310 |
SNPshot | rs1057519310 |
SNPdbe | rs1057519310 |
MSV3d | rs1057519310 |
GWAS Ctlg | rs1057519310 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519310(-;-) |
Alt | rs1057519310(-;-) |
Reference | Rs1057519310(C;C) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | DENND5A |
CLNDBN | Epileptic encephalopathy, early infantile, 49 |
Reversed | 1 |
HGVS | NC_000011.9:g.9161271delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415582.2, |