rs771507094
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs771507094(C;T) |
Make rs771507094(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 184354643 |
Gene | CLCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs771507094 |
dbSNP (classic) | rs771507094 |
ClinGen | rs771507094 |
ebi | rs771507094 |
HLI | rs771507094 |
Exac | rs771507094 |
Gnomad | rs771507094 |
Varsome | rs771507094 |
LitVar | rs771507094 |
Map | rs771507094 |
PheGenI | rs771507094 |
Biobank | rs771507094 |
1000 genomes | rs771507094 |
hgdp | rs771507094 |
ensembl | rs771507094 |
geneview | rs771507094 |
scholar | rs771507094 |
rs771507094 | |
pharmgkb | rs771507094 |
gwascentral | rs771507094 |
openSNP | rs771507094 |
23andMe | rs771507094 |
SNPshot | rs771507094 |
SNPdbe | rs771507094 |
MSV3d | rs771507094 |
GWAS Ctlg | rs771507094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771507094(T;T) |
Alt | rs771507094(T;T) |
Reference | Rs771507094(C;C) |
Significance | Pathogenic |
Disease | Leukoencephalopathy with ataxia |
Variation | info |
Gene | CLCN2 |
CLNDBN | Leukoencephalopathy with ataxia |
Reversed | 0 |
HGVS | NC_000003.11:g.184072431C>T |
CLNSRC | |
CLNACC | RCV000201810.1, |