rs121918624
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918624(C;T) |
Make rs121918624(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 166052882 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs121918624 |
dbSNP (classic) | rs121918624 |
ClinGen | rs121918624 |
ebi | rs121918624 |
HLI | rs121918624 |
Exac | rs121918624 |
Gnomad | rs121918624 |
Varsome | rs121918624 |
LitVar | rs121918624 |
Map | rs121918624 |
PheGenI | rs121918624 |
Biobank | rs121918624 |
1000 genomes | rs121918624 |
hgdp | rs121918624 |
ensembl | rs121918624 |
geneview | rs121918624 |
scholar | rs121918624 |
rs121918624 | |
pharmgkb | rs121918624 |
gwascentral | rs121918624 |
openSNP | rs121918624 |
23andMe | rs121918624 |
SNPshot | rs121918624 |
SNPdbe | rs121918624 |
MSV3d | rs121918624 |
GWAS Ctlg | rs121918624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918624(T;T) |
Alt | rs121918624(T;T) |
Reference | Rs121918624(C;C) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided |
Variation | info |
Gene | SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166909392G>A |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000032604.26, RCV000150094.4, RCV000188841.2, |