rs386833440
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386833440(A;A) |
Make rs386833440(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 43774658 |
Gene | CSTB |
is a | snp |
is | mentioned by |
dbSNP | rs386833440 |
dbSNP (classic) | rs386833440 |
ClinGen | rs386833440 |
ebi | rs386833440 |
HLI | rs386833440 |
Exac | rs386833440 |
Gnomad | rs386833440 |
Varsome | rs386833440 |
LitVar | rs386833440 |
Map | rs386833440 |
PheGenI | rs386833440 |
Biobank | rs386833440 |
1000 genomes | rs386833440 |
hgdp | rs386833440 |
ensembl | rs386833440 |
geneview | rs386833440 |
scholar | rs386833440 |
rs386833440 | |
pharmgkb | rs386833440 |
gwascentral | rs386833440 |
openSNP | rs386833440 |
23andMe | rs386833440 |
SNPshot | rs386833440 |
SNPdbe | rs386833440 |
MSV3d | rs386833440 |
GWAS Ctlg | rs386833440 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833440(A;A) |
Alt | rs386833440(A;A) |
Reference | Rs386833440(G;G) |
Significance | Other |
Disease | Unverricht-Lundborg syndrome |
Variation | info |
Gene | CSTB |
CLNDBN | Unverricht-Lundborg syndrome |
Reversed | 1 |
HGVS | NC_000021.8:g.45194539C>T |
CLNSRC | ClinVar |
CLNACC | RCV000049367.1, |
[PMID 11814737] Unverricht-Lundborg disease with cystatin B gene abnormalities.