rs41307846
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs41307846(A;A) |
Make rs41307846(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 2028260 |
Gene | GABRD |
is a | snp |
is | mentioned by |
dbSNP | rs41307846 |
dbSNP (classic) | rs41307846 |
ClinGen | rs41307846 |
ebi | rs41307846 |
HLI | rs41307846 |
Exac | rs41307846 |
Gnomad | rs41307846 |
Varsome | rs41307846 |
LitVar | rs41307846 |
Map | rs41307846 |
PheGenI | rs41307846 |
Biobank | rs41307846 |
1000 genomes | rs41307846 |
hgdp | rs41307846 |
ensembl | rs41307846 |
geneview | rs41307846 |
scholar | rs41307846 |
rs41307846 | |
pharmgkb | rs41307846 |
gwascentral | rs41307846 |
openSNP | rs41307846 |
23andMe | rs41307846 |
SNPshot | rs41307846 |
SNPdbe | rs41307846 |
MSV3d | rs41307846 |
GWAS Ctlg | rs41307846 |
GMAF | 0.009642 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41307846(A;A) |
Alt | rs41307846(A;A) |
Reference | Rs41307846(G;G) |
Significance | Other |
Disease | Generalized epilepsy with febrile seizures plus type 5 Epilepsy |
Variation | info |
Gene | GABRD |
CLNDBN | Generalized epilepsy with febrile seizures plus type 5 Epilepsy, juvenile myoclonic 7 Epilepsy, idiopathic generalized 10 |
Reversed | 0 |
HGVS | NC_000001.10:g.1959699G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017599.2, RCV000017600.2, RCV000022558.2, |