rs121434580
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121434580(A;C) |
Make rs121434580(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 2027636 |
Gene | GABRD |
is a | snp |
is | mentioned by |
dbSNP | rs121434580 |
dbSNP (classic) | rs121434580 |
ClinGen | rs121434580 |
ebi | rs121434580 |
HLI | rs121434580 |
Exac | rs121434580 |
Gnomad | rs121434580 |
Varsome | rs121434580 |
LitVar | rs121434580 |
Map | rs121434580 |
PheGenI | rs121434580 |
Biobank | rs121434580 |
1000 genomes | rs121434580 |
hgdp | rs121434580 |
ensembl | rs121434580 |
geneview | rs121434580 |
scholar | rs121434580 |
rs121434580 | |
pharmgkb | rs121434580 |
gwascentral | rs121434580 |
openSNP | rs121434580 |
23andMe | rs121434580 |
SNPshot | rs121434580 |
SNPdbe | rs121434580 |
MSV3d | rs121434580 |
GWAS Ctlg | rs121434580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434580(C;C) |
Alt | rs121434580(C;C) |
Reference | Rs121434580(A;A) |
Significance | Other |
Disease | Generalized epilepsy with febrile seizures plus type 5 |
Variation | info |
Gene | GABRD |
CLNDBN | Generalized epilepsy with febrile seizures plus type 5 |
Reversed | 0 |
HGVS | NC_000001.10:g.1959075A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017598.2, |