rs281875309
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281875309(C;T) |
Make rs281875309(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 50083145 |
Gene | MLC1 |
is a | snp |
is | mentioned by |
dbSNP | rs281875309 |
dbSNP (classic) | rs281875309 |
ClinGen | rs281875309 |
ebi | rs281875309 |
HLI | rs281875309 |
Exac | rs281875309 |
Gnomad | rs281875309 |
Varsome | rs281875309 |
LitVar | rs281875309 |
Map | rs281875309 |
PheGenI | rs281875309 |
Biobank | rs281875309 |
1000 genomes | rs281875309 |
hgdp | rs281875309 |
ensembl | rs281875309 |
geneview | rs281875309 |
scholar | rs281875309 |
rs281875309 | |
pharmgkb | rs281875309 |
gwascentral | rs281875309 |
openSNP | rs281875309 |
23andMe | rs281875309 |
SNPshot | rs281875309 |
SNPdbe | rs281875309 |
MSV3d | rs281875309 |
GWAS Ctlg | rs281875309 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281875309(T;T) |
Alt | rs281875309(T;T) |
Reference | Rs281875309(C;C) |
Significance | Pathogenic |
Disease | Megalencephalic leukoencephalopathy with subcortical cysts 1 not provided |
Variation | info |
Gene | MLC1 |
CLNDBN | Megalencephalic leukoencephalopathy with subcortical cysts 1 not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.50521574G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000024319.3, RCV000059741.1, |
[PMID 16652334] Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.