rs202219507
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs202219507(A;A) |
Make rs202219507(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 201733377 |
Gene | ALS2 |
is a | snp |
is | mentioned by |
dbSNP | rs202219507 |
dbSNP (classic) | rs202219507 |
ClinGen | rs202219507 |
ebi | rs202219507 |
HLI | rs202219507 |
Exac | rs202219507 |
Gnomad | rs202219507 |
Varsome | rs202219507 |
LitVar | rs202219507 |
Map | rs202219507 |
PheGenI | rs202219507 |
Biobank | rs202219507 |
1000 genomes | rs202219507 |
hgdp | rs202219507 |
ensembl | rs202219507 |
geneview | rs202219507 |
scholar | rs202219507 |
rs202219507 | |
pharmgkb | rs202219507 |
gwascentral | rs202219507 |
openSNP | rs202219507 |
23andMe | rs202219507 |
SNPshot | rs202219507 |
SNPdbe | rs202219507 |
MSV3d | rs202219507 |
GWAS Ctlg | rs202219507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202219507(A;A) |
Alt | rs202219507(A;A) |
Reference | Rs202219507(T;T) |
Significance | Probable-Pathogenic |
Disease | Amyotrophic Lateral Sclerosis ALS2-Related Spectrum Disorders Peripheral axonal neuropathy |
Variation | info |
Gene | ALS2 |
CLNDBN | Amyotrophic Lateral Sclerosis, Recessive ALS2-Related Spectrum Disorders Peripheral axonal neuropathy |
Reversed | 0 |
HGVS | NC_000002.11:g.202598100T>A |
CLNSRC | |
CLNACC | RCV000328276.1, RCV000382737.1, RCV000414980.1, |