rs34757931
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs34757931(G;G) |
Make rs34757931(G;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 119081189 |
Gene | VPS11 |
is a | snp |
is | mentioned by |
dbSNP | rs34757931 |
dbSNP (classic) | rs34757931 |
ClinGen | rs34757931 |
ebi | rs34757931 |
HLI | rs34757931 |
Exac | rs34757931 |
Gnomad | rs34757931 |
Varsome | rs34757931 |
LitVar | rs34757931 |
Map | rs34757931 |
PheGenI | rs34757931 |
Biobank | rs34757931 |
1000 genomes | rs34757931 |
hgdp | rs34757931 |
ensembl | rs34757931 |
geneview | rs34757931 |
scholar | rs34757931 |
rs34757931 | |
pharmgkb | rs34757931 |
gwascentral | rs34757931 |
openSNP | rs34757931 |
23andMe | rs34757931 |
SNPshot | rs34757931 |
SNPdbe | rs34757931 |
MSV3d | rs34757931 |
GWAS Ctlg | rs34757931 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34757931(G;G) |
Alt | rs34757931(G;G) |
Reference | Rs34757931(T;T) |
Significance | Pathogenic |
Disease | Leukoencephalopathy Leukodystrophy |
Variation | info |
Gene | VPS11 |
CLNDBN | Leukoencephalopathy Leukodystrophy, hypomyelinating, 12 |
Reversed | 0 |
HGVS | NC_000011.9:g.118951899T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202610.1, RCV000203530.3, |