rs1060499544
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCG;CCG) | 0 | common in clinvar |
Make rs1060499544(-;-) |
Make rs1060499544(-;CCG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 63424191 |
Gene | KCNQ2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499544 |
dbSNP (classic) | rs1060499544 |
ClinGen | rs1060499544 |
ebi | rs1060499544 |
HLI | rs1060499544 |
Exac | rs1060499544 |
Gnomad | rs1060499544 |
Varsome | rs1060499544 |
LitVar | rs1060499544 |
Map | rs1060499544 |
PheGenI | rs1060499544 |
Biobank | rs1060499544 |
1000 genomes | rs1060499544 |
hgdp | rs1060499544 |
ensembl | rs1060499544 |
geneview | rs1060499544 |
scholar | rs1060499544 |
rs1060499544 | |
pharmgkb | rs1060499544 |
gwascentral | rs1060499544 |
openSNP | rs1060499544 |
23andMe | rs1060499544 |
SNPshot | rs1060499544 |
SNPdbe | rs1060499544 |
MSV3d | rs1060499544 |
GWAS Ctlg | rs1060499544 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499544(-;-) |
Alt | rs1060499544(-;-) |
Reference | Rs1060499544(CCG;CCG) |
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.62055544_62055546delCGG |
CLNSRC | |
CLNACC | RCV000408743.1, |