rs587777264
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777264(A;A) |
Make rs587777264(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 135759686 |
Gene | KCNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs587777264 |
dbSNP (classic) | rs587777264 |
ClinGen | rs587777264 |
ebi | rs587777264 |
HLI | rs587777264 |
Exac | rs587777264 |
Gnomad | rs587777264 |
Varsome | rs587777264 |
LitVar | rs587777264 |
Map | rs587777264 |
PheGenI | rs587777264 |
Biobank | rs587777264 |
1000 genomes | rs587777264 |
hgdp | rs587777264 |
ensembl | rs587777264 |
geneview | rs587777264 |
scholar | rs587777264 |
rs587777264 | |
pharmgkb | rs587777264 |
gwascentral | rs587777264 |
openSNP | rs587777264 |
23andMe | rs587777264 |
SNPshot | rs587777264 |
SNPdbe | rs587777264 |
MSV3d | rs587777264 |
GWAS Ctlg | rs587777264 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777264(A;A) |
Alt | rs587777264(A;A) |
Reference | Rs587777264(G;G) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 14 not provided |
Variation | info |
Gene | KCNT1 |
CLNDBN | Early infantile epileptic encephalopathy 14 not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.138651532G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114361.3, RCV000255411.1, |