rs397514737
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514737(A;A) |
Make rs397514737(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 162149153 |
Gene | GABRG2 |
is a | snp |
is | mentioned by |
dbSNP | rs397514737 |
dbSNP (classic) | rs397514737 |
ClinGen | rs397514737 |
ebi | rs397514737 |
HLI | rs397514737 |
Exac | rs397514737 |
Gnomad | rs397514737 |
Varsome | rs397514737 |
LitVar | rs397514737 |
Map | rs397514737 |
PheGenI | rs397514737 |
Biobank | rs397514737 |
1000 genomes | rs397514737 |
hgdp | rs397514737 |
ensembl | rs397514737 |
geneview | rs397514737 |
scholar | rs397514737 |
rs397514737 | |
pharmgkb | rs397514737 |
gwascentral | rs397514737 |
openSNP | rs397514737 |
23andMe | rs397514737 |
SNPshot | rs397514737 |
SNPdbe | rs397514737 |
MSV3d | rs397514737 |
GWAS Ctlg | rs397514737 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514737(A;A) |
Alt | rs397514737(A;A) |
Reference | Rs397514737(G;G) |
Significance | Pathogenic |
Disease | Generalized epilepsy with febrile seizures plus 3 not provided |
Variation | info |
Gene | GABRG2 |
CLNDBN | Generalized epilepsy with febrile seizures plus 3 not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.161576159G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054505.28, RCV000187531.3, |