rs1801475
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1801475(A;C) |
Make rs1801475(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63406924 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs1801475 |
dbSNP (classic) | rs1801475 |
ClinGen | rs1801475 |
ebi | rs1801475 |
HLI | rs1801475 |
Exac | rs1801475 |
Gnomad | rs1801475 |
Varsome | rs1801475 |
LitVar | rs1801475 |
Map | rs1801475 |
PheGenI | rs1801475 |
Biobank | rs1801475 |
1000 genomes | rs1801475 |
hgdp | rs1801475 |
ensembl | rs1801475 |
geneview | rs1801475 |
scholar | rs1801475 |
rs1801475 | |
pharmgkb | rs1801475 |
gwascentral | rs1801475 |
openSNP | rs1801475 |
23andMe | rs1801475 |
SNPshot | rs1801475 |
SNPdbe | rs1801475 |
MSV3d | rs1801475 |
GWAS Ctlg | rs1801475 |
GMAF | 0.4118 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1801475(C;C) |
Alt | rs1801475(C;C) |
Reference | Rs1801475(A;A) |
Significance | Non-pathogenic |
Disease | Benign familial neonatal seizures 1 not specified KCNQ2-Related Disorders |
Variation | info |
Gene | KCNQ2 |
CLNDBN | Benign familial neonatal seizures 1 not specified KCNQ2-Related Disorders |
Reversed | 1 |
HGVS | NC_000020.10:g.62038277T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000020987.1, RCV000082686.9, RCV000348446.1, |