rs886037939
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs886037939(A;T) |
Make rs886037939(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 26580456 |
Gene | GABRB3 |
is a | snp |
is | mentioned by |
dbSNP | rs886037939 |
dbSNP (classic) | rs886037939 |
ClinGen | rs886037939 |
ebi | rs886037939 |
HLI | rs886037939 |
Exac | rs886037939 |
Gnomad | rs886037939 |
Varsome | rs886037939 |
LitVar | rs886037939 |
Map | rs886037939 |
PheGenI | rs886037939 |
Biobank | rs886037939 |
1000 genomes | rs886037939 |
hgdp | rs886037939 |
ensembl | rs886037939 |
geneview | rs886037939 |
scholar | rs886037939 |
rs886037939 | |
pharmgkb | rs886037939 |
gwascentral | rs886037939 |
openSNP | rs886037939 |
23andMe | rs886037939 |
SNPshot | rs886037939 |
SNPdbe | rs886037939 |
MSV3d | rs886037939 |
GWAS Ctlg | rs886037939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037939(T;T) |
Alt | rs886037939(T;T) |
Reference | Rs886037939(A;A) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | GABRB3 |
CLNDBN | Epileptic encephalopathy, early infantile, 43 |
Reversed | 1 |
HGVS | NC_000015.9:g.26825603T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000240882.1, |