rs386134174
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386134174(-;-) |
Make rs386134174(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 201761441 |
Gene | ALS2 |
is a | snp |
is | mentioned by |
dbSNP | rs386134174 |
dbSNP (classic) | rs386134174 |
ClinGen | rs386134174 |
ebi | rs386134174 |
HLI | rs386134174 |
Exac | rs386134174 |
Gnomad | rs386134174 |
Varsome | rs386134174 |
LitVar | rs386134174 |
Map | rs386134174 |
PheGenI | rs386134174 |
Biobank | rs386134174 |
1000 genomes | rs386134174 |
hgdp | rs386134174 |
ensembl | rs386134174 |
geneview | rs386134174 |
scholar | rs386134174 |
rs386134174 | |
pharmgkb | rs386134174 |
gwascentral | rs386134174 |
openSNP | rs386134174 |
23andMe | rs386134174 |
SNPshot | rs386134174 |
SNPdbe | rs386134174 |
MSV3d | rs386134174 |
GWAS Ctlg | rs386134174 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134174(-;-) |
Alt | rs386134174(-;-) |
Reference | Rs386134174(A;A) |
Significance | Pathogenic |
Disease | Amyotrophic lateral sclerosis type 2 |
Variation | info |
Gene | ALS2 |
CLNDBN | Amyotrophic lateral sclerosis type 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.202626164delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004664.7, |
[PMID 16240357] Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.