rs386134182
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386134182(A;T) |
Make rs386134182(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 201744431 |
Gene | ALS2 |
is a | snp |
is | mentioned by |
dbSNP | rs386134182 |
dbSNP (classic) | rs386134182 |
ClinGen | rs386134182 |
ebi | rs386134182 |
HLI | rs386134182 |
Exac | rs386134182 |
Gnomad | rs386134182 |
Varsome | rs386134182 |
LitVar | rs386134182 |
Map | rs386134182 |
PheGenI | rs386134182 |
Biobank | rs386134182 |
1000 genomes | rs386134182 |
hgdp | rs386134182 |
ensembl | rs386134182 |
geneview | rs386134182 |
scholar | rs386134182 |
rs386134182 | |
pharmgkb | rs386134182 |
gwascentral | rs386134182 |
openSNP | rs386134182 |
23andMe | rs386134182 |
SNPshot | rs386134182 |
SNPdbe | rs386134182 |
MSV3d | rs386134182 |
GWAS Ctlg | rs386134182 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134182(T;T) |
Alt | rs386134182(T;T) |
Reference | Rs386134182(A;A) |
Significance | Pathogenic |
Disease | Infantile-onset ascending hereditary spastic paralysis |
Variation | info |
Gene | ALS2 |
CLNDBN | Infantile-onset ascending hereditary spastic paralysis |
Reversed | 1 |
HGVS | NC_000002.11:g.202609154T>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034887.1, |
[PMID 18810511] Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).