rs398122394
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398122394(A;G) |
Make rs398122394(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 111685040 |
Gene | ALG13 |
is a | snp |
is | mentioned by |
dbSNP | rs398122394 |
dbSNP (classic) | rs398122394 |
ClinGen | rs398122394 |
ebi | rs398122394 |
HLI | rs398122394 |
Exac | rs398122394 |
Gnomad | rs398122394 |
Varsome | rs398122394 |
LitVar | rs398122394 |
Map | rs398122394 |
PheGenI | rs398122394 |
Biobank | rs398122394 |
1000 genomes | rs398122394 |
hgdp | rs398122394 |
ensembl | rs398122394 |
geneview | rs398122394 |
scholar | rs398122394 |
rs398122394 | |
pharmgkb | rs398122394 |
gwascentral | rs398122394 |
openSNP | rs398122394 |
23andMe | rs398122394 |
SNPshot | rs398122394 |
SNPdbe | rs398122394 |
MSV3d | rs398122394 |
GWAS Ctlg | rs398122394 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122394(G;G) |
Alt | rs398122394(G;G) |
Reference | Rs398122394(A;A) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy not provided |
Variation | info |
Gene | ALG13 |
CLNDBN | Epileptic encephalopathy, early infantile, 36 not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.110928268A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000056321.7, RCV000289979.2, |