rs1057516336
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs1057516336(-;-) |
Make rs1057516336(-;AT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 50080393 |
Gene | MLC1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516336 |
dbSNP (classic) | rs1057516336 |
ClinGen | rs1057516336 |
ebi | rs1057516336 |
HLI | rs1057516336 |
Exac | rs1057516336 |
Gnomad | rs1057516336 |
Varsome | rs1057516336 |
LitVar | rs1057516336 |
Map | rs1057516336 |
PheGenI | rs1057516336 |
Biobank | rs1057516336 |
1000 genomes | rs1057516336 |
hgdp | rs1057516336 |
ensembl | rs1057516336 |
geneview | rs1057516336 |
scholar | rs1057516336 |
rs1057516336 | |
pharmgkb | rs1057516336 |
gwascentral | rs1057516336 |
openSNP | rs1057516336 |
23andMe | rs1057516336 |
SNPshot | rs1057516336 |
SNPdbe | rs1057516336 |
MSV3d | rs1057516336 |
GWAS Ctlg | rs1057516336 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516336(-;-) |
Alt | rs1057516336(-;-) |
Reference | Rs1057516336(AT;AT) |
Significance | Probable-Pathogenic |
Disease | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
Variation | info |
Gene | MLC1 |
CLNDBN | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
Reversed | 1 |
HGVS | NC_000022.10:g.50518822_50518823delAT |
CLNSRC | |
CLNACC | RCV000409108.1, |