rs743616
From SNPedia
Lysosomal Storage Disease May be neurodegenerative. May have low or reference range levels of arylsulfatase A in the serum, but sulfatide is not stored. Possible Multiple sulfatase deficiency |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs743616(C;C) |
Make rs743616(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 50625611 |
Gene | ARSA |
is a | snp |
is | mentioned by |
dbSNP | rs743616 |
dbSNP (classic) | rs743616 |
ClinGen | rs743616 |
ebi | rs743616 |
HLI | rs743616 |
Exac | rs743616 |
Gnomad | rs743616 |
Varsome | rs743616 |
LitVar | rs743616 |
Map | rs743616 |
PheGenI | rs743616 |
Biobank | rs743616 |
1000 genomes | rs743616 |
hgdp | rs743616 |
ensembl | rs743616 |
geneview | rs743616 |
scholar | rs743616 |
rs743616 | |
pharmgkb | rs743616 |
gwascentral | rs743616 |
openSNP | rs743616 |
23andMe | rs743616 |
SNPshot | rs743616 |
SNPdbe | rs743616 |
MSV3d | rs743616 |
GWAS Ctlg | rs743616 |
GMAF | 0.4261 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs743616(C;C) |
Alt | rs743616(C;C) |
Reference | Rs743616(G;G) |
Significance | Non-pathogenic |
Disease | Metachromatic leukodystrophy not specified |
Variation | info |
Gene | ARSA |
CLNDBN | Metachromatic leukodystrophy not specified |
Reversed | 0 |
HGVS | NC_000022.10:g.51064039G>C |
CLNSRC | HGMD |
CLNACC | RCV000020311.2, RCV000078937.5, |
[PMID 18454203] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.