rs386134186
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386134186(C;C) |
Make rs386134186(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 201723325 |
Gene | ALS2 |
is a | snp |
is | mentioned by |
dbSNP | rs386134186 |
dbSNP (classic) | rs386134186 |
ClinGen | rs386134186 |
ebi | rs386134186 |
HLI | rs386134186 |
Exac | rs386134186 |
Gnomad | rs386134186 |
Varsome | rs386134186 |
LitVar | rs386134186 |
Map | rs386134186 |
PheGenI | rs386134186 |
Biobank | rs386134186 |
1000 genomes | rs386134186 |
hgdp | rs386134186 |
ensembl | rs386134186 |
geneview | rs386134186 |
scholar | rs386134186 |
rs386134186 | |
pharmgkb | rs386134186 |
gwascentral | rs386134186 |
openSNP | rs386134186 |
23andMe | rs386134186 |
SNPshot | rs386134186 |
SNPdbe | rs386134186 |
MSV3d | rs386134186 |
GWAS Ctlg | rs386134186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134186(C;C) |
Alt | rs386134186(C;C) |
Reference | Rs386134186(G;G) |
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.202588048C>G |
CLNSRC | |
CLNACC | RCV000034989.1, |