rs886039818
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886039818(C;T) |
Make rs886039818(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 4 |
Position | 47406706 |
Gene | GABRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs886039818 |
dbSNP (classic) | rs886039818 |
ClinGen | rs886039818 |
ebi | rs886039818 |
HLI | rs886039818 |
Exac | rs886039818 |
Gnomad | rs886039818 |
Varsome | rs886039818 |
LitVar | rs886039818 |
Map | rs886039818 |
PheGenI | rs886039818 |
Biobank | rs886039818 |
1000 genomes | rs886039818 |
hgdp | rs886039818 |
ensembl | rs886039818 |
geneview | rs886039818 |
scholar | rs886039818 |
rs886039818 | |
pharmgkb | rs886039818 |
gwascentral | rs886039818 |
openSNP | rs886039818 |
23andMe | rs886039818 |
SNPshot | rs886039818 |
SNPdbe | rs886039818 |
MSV3d | rs886039818 |
GWAS Ctlg | rs886039818 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039818(T;T) |
Alt | rs886039818(T;T) |
Reference | Rs886039818(C;C) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | GABRB1 |
CLNDBN | Epileptic encephalopathy, early infantile, 45 |
Reversed | 0 |
HGVS | NC_000004.11:g.47408723C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000256350.1, |