rs843358
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs843358(C;C) |
Make rs843358(C;T) |
Make rs843358(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 184143455 |
Gene | EIF2B5 |
is a | snp |
is | mentioned by |
dbSNP | rs843358 |
dbSNP (classic) | rs843358 |
ClinGen | rs843358 |
ebi | rs843358 |
HLI | rs843358 |
Exac | rs843358 |
Gnomad | rs843358 |
Varsome | rs843358 |
LitVar | rs843358 |
Map | rs843358 |
PheGenI | rs843358 |
Biobank | rs843358 |
1000 genomes | rs843358 |
hgdp | rs843358 |
ensembl | rs843358 |
geneview | rs843358 |
scholar | rs843358 |
rs843358 | |
pharmgkb | rs843358 |
gwascentral | rs843358 |
openSNP | rs843358 |
23andMe | rs843358 |
SNPshot | rs843358 |
SNPdbe | rs843358 |
MSV3d | rs843358 |
GWAS Ctlg | rs843358 |
GMAF | 0.3714 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs843358(C;C) |
Alt | rs843358(C;C) |
Reference | rs843358(T;T) |
Significance | Other |
Disease | not specified Leukoencephalopathy with vanishing white matter |
Variation | info |
Gene | EIF2B5 |
CLNDBN | not specified Leukoencephalopathy with vanishing white matter |
Reversed | 1 |
HGVS | NC_000003.11:g.183861243A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000080353.8, RCV000313724.1, |