rs1057516095
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057516095(C;T) |
Make rs1057516095(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 63439698 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516095 |
dbSNP (classic) | rs1057516095 |
ClinGen | rs1057516095 |
ebi | rs1057516095 |
HLI | rs1057516095 |
Exac | rs1057516095 |
Gnomad | rs1057516095 |
Varsome | rs1057516095 |
LitVar | rs1057516095 |
Map | rs1057516095 |
PheGenI | rs1057516095 |
Biobank | rs1057516095 |
1000 genomes | rs1057516095 |
hgdp | rs1057516095 |
ensembl | rs1057516095 |
geneview | rs1057516095 |
scholar | rs1057516095 |
rs1057516095 | |
pharmgkb | rs1057516095 |
gwascentral | rs1057516095 |
openSNP | rs1057516095 |
23andMe | rs1057516095 |
SNPshot | rs1057516095 |
SNPdbe | rs1057516095 |
MSV3d | rs1057516095 |
GWAS Ctlg | rs1057516095 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516095(T;T) |
Alt | rs1057516095(T;T) |
Reference | Rs1057516095(C;C) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 7 not provided |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Early infantile epileptic encephalopathy 7 not provided |
Reversed | 1 |
HGVS | NC_000020.10:g.62071051G>A |
CLNSRC | |
CLNACC | RCV000408657.1, RCV000436653.1, |