rs886041034
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 1 |
Position | 43420983 |
Gene | SZT2 |
is a | snp |
is | mentioned by |
dbSNP | rs886041034 |
dbSNP (classic) | rs886041034 |
ClinGen | rs886041034 |
ebi | rs886041034 |
HLI | rs886041034 |
Exac | rs886041034 |
Gnomad | rs886041034 |
Varsome | rs886041034 |
LitVar | rs886041034 |
Map | rs886041034 |
PheGenI | rs886041034 |
Biobank | rs886041034 |
1000 genomes | rs886041034 |
hgdp | rs886041034 |
ensembl | rs886041034 |
geneview | rs886041034 |
scholar | rs886041034 |
rs886041034 | |
pharmgkb | rs886041034 |
gwascentral | rs886041034 |
openSNP | rs886041034 |
23andMe | rs886041034 |
SNPshot | rs886041034 |
SNPdbe | rs886041034 |
MSV3d | rs886041034 |
GWAS Ctlg | rs886041034 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041034(T;T) |
Alt | rs886041034(T;T) |
Reference | Rs886041034(G;G) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 18 |
Variation | info |
Gene | SZT2 |
CLNDBN | Early infantile epileptic encephalopathy 18 |
Reversed | 0 |
HGVS | NC_000001.10:g.43886654G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057520.3, |