rs777105668
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs777105668(C;T) |
Make rs777105668(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 184354548 |
Gene | CLCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs777105668 |
dbSNP (classic) | rs777105668 |
ClinGen | rs777105668 |
ebi | rs777105668 |
HLI | rs777105668 |
Exac | rs777105668 |
Gnomad | rs777105668 |
Varsome | rs777105668 |
LitVar | rs777105668 |
Map | rs777105668 |
PheGenI | rs777105668 |
Biobank | rs777105668 |
1000 genomes | rs777105668 |
hgdp | rs777105668 |
ensembl | rs777105668 |
geneview | rs777105668 |
scholar | rs777105668 |
rs777105668 | |
pharmgkb | rs777105668 |
gwascentral | rs777105668 |
openSNP | rs777105668 |
23andMe | rs777105668 |
SNPshot | rs777105668 |
SNPdbe | rs777105668 |
MSV3d | rs777105668 |
GWAS Ctlg | rs777105668 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777105668(T;T) |
Alt | rs777105668(T;T) |
Reference | Rs777105668(C;C) |
Significance | Pathogenic |
Disease | Leukoencephalopathy with ataxia |
Variation | info |
Gene | CLCN2 |
CLNDBN | Leukoencephalopathy with ataxia |
Reversed | 0 |
HGVS | NC_000003.11:g.184072336C>T |
CLNSRC | |
CLNACC | RCV000201806.1, |