rs761620701
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs761620701(C;T) |
Make rs761620701(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 50074215 |
Gene | MLC1 |
is a | snp |
is | mentioned by |
dbSNP | rs761620701 |
dbSNP (classic) | rs761620701 |
ClinGen | rs761620701 |
ebi | rs761620701 |
HLI | rs761620701 |
Exac | rs761620701 |
Gnomad | rs761620701 |
Varsome | rs761620701 |
LitVar | rs761620701 |
Map | rs761620701 |
PheGenI | rs761620701 |
Biobank | rs761620701 |
1000 genomes | rs761620701 |
hgdp | rs761620701 |
ensembl | rs761620701 |
geneview | rs761620701 |
scholar | rs761620701 |
rs761620701 | |
pharmgkb | rs761620701 |
gwascentral | rs761620701 |
openSNP | rs761620701 |
23andMe | rs761620701 |
SNPshot | rs761620701 |
SNPdbe | rs761620701 |
MSV3d | rs761620701 |
GWAS Ctlg | rs761620701 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761620701(T;T) |
Alt | rs761620701(T;T) |
Reference | Rs761620701(C;C) |
Significance | Probable-Pathogenic |
Disease | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
Variation | info |
Gene | MLC1 |
CLNDBN | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
Reversed | 0 |
HGVS | NC_000022.10:g.50512644C>T |
CLNSRC | |
CLNACC | RCV000169359.1, |