rs431905493
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs431905493(-;-) |
Make rs431905493(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 78985011 |
Gene | ARSB |
is a | snp |
is | mentioned by |
dbSNP | rs431905493 |
dbSNP (classic) | rs431905493 |
ClinGen | rs431905493 |
ebi | rs431905493 |
HLI | rs431905493 |
Exac | rs431905493 |
Gnomad | rs431905493 |
Varsome | rs431905493 |
LitVar | rs431905493 |
Map | rs431905493 |
PheGenI | rs431905493 |
Biobank | rs431905493 |
1000 genomes | rs431905493 |
hgdp | rs431905493 |
ensembl | rs431905493 |
geneview | rs431905493 |
scholar | rs431905493 |
rs431905493 | |
pharmgkb | rs431905493 |
gwascentral | rs431905493 |
openSNP | rs431905493 |
23andMe | rs431905493 |
SNPshot | rs431905493 |
SNPdbe | rs431905493 |
MSV3d | rs431905493 |
GWAS Ctlg | rs431905493 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905493(-;-) |
Alt | rs431905493(-;-) |
Reference | Rs431905493(G;G) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | ARSB |
CLNDBN | Mucopolysaccharidosis, type vi, severe |
Reversed | 1 |
HGVS | NC_000005.9:g.78280834delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000929.6, |