rs113994040
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs113994040(C;C) |
Make rs113994040(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 27364507 |
Gene | EIF2B4 |
is a | snp |
is | mentioned by |
dbSNP | rs113994040 |
dbSNP (classic) | rs113994040 |
ClinGen | rs113994040 |
ebi | rs113994040 |
HLI | rs113994040 |
Exac | rs113994040 |
Gnomad | rs113994040 |
Varsome | rs113994040 |
LitVar | rs113994040 |
Map | rs113994040 |
PheGenI | rs113994040 |
Biobank | rs113994040 |
1000 genomes | rs113994040 |
hgdp | rs113994040 |
ensembl | rs113994040 |
geneview | rs113994040 |
scholar | rs113994040 |
rs113994040 | |
pharmgkb | rs113994040 |
gwascentral | rs113994040 |
openSNP | rs113994040 |
23andMe | rs113994040 |
SNPshot | rs113994040 |
SNPdbe | rs113994040 |
MSV3d | rs113994040 |
GWAS Ctlg | rs113994040 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994040(C;C) |
Alt | rs113994040(C;C) |
Reference | Rs113994040(T;T) |
Significance | Pathogenic |
Disease | Ovarioleukodystrophy |
Variation | info |
Gene | EIF2B4 |
CLNDBN | Ovarioleukodystrophy |
Reversed | 1 |
HGVS | NC_000002.11:g.27587374A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004338.4, |
[PMID 12707859] Ovarian failure related to eukaryotic initiation factor 2B mutations.