rs886037940
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886037940(A;A) |
Make rs886037940(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 26567671 |
Gene | GABRB3 |
is a | snp |
is | mentioned by |
dbSNP | rs886037940 |
dbSNP (classic) | rs886037940 |
ClinGen | rs886037940 |
ebi | rs886037940 |
HLI | rs886037940 |
Exac | rs886037940 |
Gnomad | rs886037940 |
Varsome | rs886037940 |
LitVar | rs886037940 |
Map | rs886037940 |
PheGenI | rs886037940 |
Biobank | rs886037940 |
1000 genomes | rs886037940 |
hgdp | rs886037940 |
ensembl | rs886037940 |
geneview | rs886037940 |
scholar | rs886037940 |
rs886037940 | |
pharmgkb | rs886037940 |
gwascentral | rs886037940 |
openSNP | rs886037940 |
23andMe | rs886037940 |
SNPshot | rs886037940 |
SNPdbe | rs886037940 |
MSV3d | rs886037940 |
GWAS Ctlg | rs886037940 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037940(A;A) |
Alt | rs886037940(A;A) |
Reference | Rs886037940(C;C) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | GABRB3 |
CLNDBN | Epileptic encephalopathy, early infantile, 43 |
Reversed | 1 |
HGVS | NC_000015.9:g.26812818G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000240922.1, |