rs769567624
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769567624(A;A) |
Make rs769567624(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 27226130 |
Gene | CAD |
is a | snp |
is | mentioned by |
dbSNP | rs769567624 |
dbSNP (classic) | rs769567624 |
ClinGen | rs769567624 |
ebi | rs769567624 |
HLI | rs769567624 |
Exac | rs769567624 |
Gnomad | rs769567624 |
Varsome | rs769567624 |
LitVar | rs769567624 |
Map | rs769567624 |
PheGenI | rs769567624 |
Biobank | rs769567624 |
1000 genomes | rs769567624 |
hgdp | rs769567624 |
ensembl | rs769567624 |
geneview | rs769567624 |
scholar | rs769567624 |
rs769567624 | |
pharmgkb | rs769567624 |
gwascentral | rs769567624 |
openSNP | rs769567624 |
23andMe | rs769567624 |
SNPshot | rs769567624 |
SNPdbe | rs769567624 |
MSV3d | rs769567624 |
GWAS Ctlg | rs769567624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769567624(A;A) |
Alt | rs769567624(A;A) |
Reference | Rs769567624(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | CAD |
CLNDBN | Epileptic encephalopathy, early infantile, 50 |
Reversed | 0 |
HGVS | NC_000002.11:g.27448998G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000185620.3, |