rs80338819
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338819(C;C) |
Make rs80338819(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 50626676 |
Gene | ARSA |
is a | snp |
is | mentioned by |
dbSNP | rs80338819 |
dbSNP (classic) | rs80338819 |
ClinGen | rs80338819 |
ebi | rs80338819 |
HLI | rs80338819 |
Exac | rs80338819 |
Gnomad | rs80338819 |
Varsome | rs80338819 |
LitVar | rs80338819 |
Map | rs80338819 |
PheGenI | rs80338819 |
Biobank | rs80338819 |
1000 genomes | rs80338819 |
hgdp | rs80338819 |
ensembl | rs80338819 |
geneview | rs80338819 |
scholar | rs80338819 |
rs80338819 | |
pharmgkb | rs80338819 |
gwascentral | rs80338819 |
openSNP | rs80338819 |
23andMe | rs80338819 |
SNPshot | rs80338819 |
SNPdbe | rs80338819 |
MSV3d | rs80338819 |
GWAS Ctlg | rs80338819 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338819(A;A) rs80338819(C;C) |
Alt | rs80338819(A;A) rs80338819(C;C) |
Reference | Rs80338819(G;G) |
Significance | Pathogenic |
Disease | Metachromatic leukodystrophy not provided |
Variation | info |
Gene | ARSA |
CLNDBN | Metachromatic leukodystrophy not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.51065104C>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020322.2, RCV000255092.1, |
[PMID 15720392] Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.