rs397514648
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397514648(A;A) |
Make rs397514648(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 75003365 |
Gene | EIF2B2 |
is a | snp |
is | mentioned by |
dbSNP | rs397514648 |
dbSNP (classic) | rs397514648 |
ClinGen | rs397514648 |
ebi | rs397514648 |
HLI | rs397514648 |
Exac | rs397514648 |
Gnomad | rs397514648 |
Varsome | rs397514648 |
LitVar | rs397514648 |
Map | rs397514648 |
PheGenI | rs397514648 |
Biobank | rs397514648 |
1000 genomes | rs397514648 |
hgdp | rs397514648 |
ensembl | rs397514648 |
geneview | rs397514648 |
scholar | rs397514648 |
rs397514648 | |
pharmgkb | rs397514648 |
gwascentral | rs397514648 |
openSNP | rs397514648 |
23andMe | rs397514648 |
SNPshot | rs397514648 |
SNPdbe | rs397514648 |
MSV3d | rs397514648 |
GWAS Ctlg | rs397514648 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514648(A;A) |
Alt | rs397514648(A;A) |
Reference | Rs397514648(T;T) |
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.75470068T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033202.3, |