rs398123411
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123411(A;G) |
Make rs398123411(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 50625683 |
Gene | ARSA |
is a | snp |
is | mentioned by |
dbSNP | rs398123411 |
dbSNP (classic) | rs398123411 |
ClinGen | rs398123411 |
ebi | rs398123411 |
HLI | rs398123411 |
Exac | rs398123411 |
Gnomad | rs398123411 |
Varsome | rs398123411 |
LitVar | rs398123411 |
Map | rs398123411 |
PheGenI | rs398123411 |
Biobank | rs398123411 |
1000 genomes | rs398123411 |
hgdp | rs398123411 |
ensembl | rs398123411 |
geneview | rs398123411 |
scholar | rs398123411 |
rs398123411 | |
pharmgkb | rs398123411 |
gwascentral | rs398123411 |
openSNP | rs398123411 |
23andMe | rs398123411 |
SNPshot | rs398123411 |
SNPdbe | rs398123411 |
MSV3d | rs398123411 |
GWAS Ctlg | rs398123411 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123411(G;G) |
Alt | rs398123411(G;G) |
Reference | Rs398123411(A;A) |
Significance | Pathogenic |
Disease | Metachromatic leukodystrophy not provided |
Variation | info |
Gene | ARSA |
CLNDBN | Metachromatic leukodystrophy not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.51064111T>C |
CLNSRC | ClinVar |
CLNACC | RCV000078932.4, RCV000482171.1, |