rs138877187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138877187(G;T) |
Make rs138877187(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 166045081 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs138877187 |
dbSNP (classic) | rs138877187 |
ClinGen | rs138877187 |
ebi | rs138877187 |
HLI | rs138877187 |
Exac | rs138877187 |
Gnomad | rs138877187 |
Varsome | rs138877187 |
LitVar | rs138877187 |
Map | rs138877187 |
PheGenI | rs138877187 |
Biobank | rs138877187 |
1000 genomes | rs138877187 |
hgdp | rs138877187 |
ensembl | rs138877187 |
geneview | rs138877187 |
scholar | rs138877187 |
rs138877187 | |
pharmgkb | rs138877187 |
gwascentral | rs138877187 |
openSNP | rs138877187 |
23andMe | rs138877187 |
SNPshot | rs138877187 |
SNPdbe | rs138877187 |
MSV3d | rs138877187 |
GWAS Ctlg | rs138877187 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138877187(A;A) rs138877187(T;T) |
Alt | rs138877187(A;A) rs138877187(T;T) |
Reference | Rs138877187(G;G) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy not provided not specified |
Variation | info |
Gene | SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy not provided not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.166901591G>A; NC_000002.11:g.166901591G>T |
CLNSRC | Peking University |
CLNACC | RCV000180802.1, RCV000188870.2, RCV000417500.1, |