rs1057516090
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057516090(A;A) |
Make rs1057516090(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 63444699 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516090 |
dbSNP (classic) | rs1057516090 |
ClinGen | rs1057516090 |
ebi | rs1057516090 |
HLI | rs1057516090 |
Exac | rs1057516090 |
Gnomad | rs1057516090 |
Varsome | rs1057516090 |
LitVar | rs1057516090 |
Map | rs1057516090 |
PheGenI | rs1057516090 |
Biobank | rs1057516090 |
1000 genomes | rs1057516090 |
hgdp | rs1057516090 |
ensembl | rs1057516090 |
geneview | rs1057516090 |
scholar | rs1057516090 |
rs1057516090 | |
pharmgkb | rs1057516090 |
gwascentral | rs1057516090 |
openSNP | rs1057516090 |
23andMe | rs1057516090 |
SNPshot | rs1057516090 |
SNPdbe | rs1057516090 |
MSV3d | rs1057516090 |
GWAS Ctlg | rs1057516090 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516090(A;A) |
Alt | rs1057516090(A;A) |
Reference | Rs1057516090(C;C) |
Significance | Pathogenic |
Disease | Benign familial neonatal seizures 1 |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Benign familial neonatal seizures 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.62076052G>T |
CLNSRC | |
CLNACC | RCV000408746.1, |