rs2971410
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2971410(C;T) |
Make rs2971410(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 184137983 |
Gene | EIF2B5 |
is a | snp |
is | mentioned by |
dbSNP | rs2971410 |
dbSNP (classic) | rs2971410 |
ClinGen | rs2971410 |
ebi | rs2971410 |
HLI | rs2971410 |
Exac | rs2971410 |
Gnomad | rs2971410 |
Varsome | rs2971410 |
LitVar | rs2971410 |
Map | rs2971410 |
PheGenI | rs2971410 |
Biobank | rs2971410 |
1000 genomes | rs2971410 |
hgdp | rs2971410 |
ensembl | rs2971410 |
geneview | rs2971410 |
scholar | rs2971410 |
rs2971410 | |
pharmgkb | rs2971410 |
gwascentral | rs2971410 |
openSNP | rs2971410 |
23andMe | rs2971410 |
SNPshot | rs2971410 |
SNPdbe | rs2971410 |
MSV3d | rs2971410 |
GWAS Ctlg | rs2971410 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2971410(T;T) |
Alt | rs2971410(T;T) |
Reference | Rs2971410(C;C) |
Significance | Pathogenic |
Disease | Leukoencephalopathy with vanishing white matter |
Variation | info |
Gene | EIF2B5 |
CLNDBN | Leukoencephalopathy with vanishing white matter |
Reversed | 1 |
HGVS | NC_000003.11:g.183855771G>A |
CLNSRC | |
CLNACC |