rs863225251
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863225251(ACTGCTCAT;ACTGCTCAT) |
Make rs863225251(ACTGCTCAT;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 184355751 |
Gene | CLCN2 |
is a | snp |
is | mentioned by |
dbSNP | rs863225251 |
dbSNP (classic) | rs863225251 |
ClinGen | rs863225251 |
ebi | rs863225251 |
HLI | rs863225251 |
Exac | rs863225251 |
Gnomad | rs863225251 |
Varsome | rs863225251 |
LitVar | rs863225251 |
Map | rs863225251 |
PheGenI | rs863225251 |
Biobank | rs863225251 |
1000 genomes | rs863225251 |
hgdp | rs863225251 |
ensembl | rs863225251 |
geneview | rs863225251 |
scholar | rs863225251 |
rs863225251 | |
pharmgkb | rs863225251 |
gwascentral | rs863225251 |
openSNP | rs863225251 |
23andMe | rs863225251 |
SNPshot | rs863225251 |
SNPdbe | rs863225251 |
MSV3d | rs863225251 |
GWAS Ctlg | rs863225251 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225251(ACTGCTCAT;ACTGCTCAT) |
Alt | rs863225251(ACTGCTCAT;ACTGCTCAT) |
Reference | Rs863225251(C;C) |
Significance | Pathogenic |
Disease | Leukoencephalopathy with ataxia |
Variation | info |
Gene | CLCN2 |
CLNDBN | Leukoencephalopathy with ataxia |
Reversed | 1 |
HGVS | NC_000003.11:g.184073539delGinsATGAGCAGT |
CLNSRC | |
CLNACC | RCV000201830.1, |