rs113994010
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113994010(-;-) |
Make rs113994010(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 75004851 |
Gene | EIF2B2 |
is a | snp |
is | mentioned by |
dbSNP | rs113994010 |
dbSNP (classic) | rs113994010 |
ClinGen | rs113994010 |
ebi | rs113994010 |
HLI | rs113994010 |
Exac | rs113994010 |
Gnomad | rs113994010 |
Varsome | rs113994010 |
LitVar | rs113994010 |
Map | rs113994010 |
PheGenI | rs113994010 |
Biobank | rs113994010 |
1000 genomes | rs113994010 |
hgdp | rs113994010 |
ensembl | rs113994010 |
geneview | rs113994010 |
scholar | rs113994010 |
rs113994010 | |
pharmgkb | rs113994010 |
gwascentral | rs113994010 |
openSNP | rs113994010 |
23andMe | rs113994010 |
SNPshot | rs113994010 |
SNPdbe | rs113994010 |
MSV3d | rs113994010 |
GWAS Ctlg | rs113994010 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs113994010(G;G) |
Significance | Pathogenic |
Disease | Leukoencephalopathy with vanishing white matter |
Variation | info |
Gene | EIF2B2 |
CLNDBN | Leukoencephalopathy with vanishing white matter |
Reversed | 0 |
HGVS | NC_000014.8:g.75471554delG |
CLNSRC | |
CLNACC |