rs370521183
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370521183(C;T) |
Make rs370521183(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 135775346 |
Gene | KCNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs370521183 |
dbSNP (classic) | rs370521183 |
ClinGen | rs370521183 |
ebi | rs370521183 |
HLI | rs370521183 |
Exac | rs370521183 |
Gnomad | rs370521183 |
Varsome | rs370521183 |
LitVar | rs370521183 |
Map | rs370521183 |
PheGenI | rs370521183 |
Biobank | rs370521183 |
1000 genomes | rs370521183 |
hgdp | rs370521183 |
ensembl | rs370521183 |
geneview | rs370521183 |
scholar | rs370521183 |
rs370521183 | |
pharmgkb | rs370521183 |
gwascentral | rs370521183 |
openSNP | rs370521183 |
23andMe | rs370521183 |
SNPshot | rs370521183 |
SNPdbe | rs370521183 |
MSV3d | rs370521183 |
GWAS Ctlg | rs370521183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370521183(A;A) rs370521183(G;G) rs370521183(T;T) |
Alt | rs370521183(A;A) rs370521183(G;G) rs370521183(T;T) |
Reference | Rs370521183(C;C) |
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.138667192C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032796.3, RCV000413294.1, |