rs398123416
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398123416(-;-) |
Make rs398123416(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 50626935 |
Gene | ARSA |
is a | snp |
is | mentioned by |
dbSNP | rs398123416 |
dbSNP (classic) | rs398123416 |
ClinGen | rs398123416 |
ebi | rs398123416 |
HLI | rs398123416 |
Exac | rs398123416 |
Gnomad | rs398123416 |
Varsome | rs398123416 |
LitVar | rs398123416 |
Map | rs398123416 |
PheGenI | rs398123416 |
Biobank | rs398123416 |
1000 genomes | rs398123416 |
hgdp | rs398123416 |
ensembl | rs398123416 |
geneview | rs398123416 |
scholar | rs398123416 |
rs398123416 | |
pharmgkb | rs398123416 |
gwascentral | rs398123416 |
openSNP | rs398123416 |
23andMe | rs398123416 |
SNPshot | rs398123416 |
SNPdbe | rs398123416 |
MSV3d | rs398123416 |
GWAS Ctlg | rs398123416 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123416(-;-) |
Alt | rs398123416(-;-) |
Reference | Rs398123416(T;T) |
Significance | Pathogenic |
Disease | Metachromatic leukodystrophy |
Variation | info |
Gene | ARSA |
CLNDBN | Metachromatic leukodystrophy |
Reversed | 1 |
HGVS | NC_000022.10:g.51065363delA |
CLNSRC | ClinVar |
CLNACC | RCV000078948.4, |