rs431905496
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs431905496(G;G) |
Make rs431905496(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 78839434 |
Gene | ARSB |
is a | snp |
is | mentioned by |
dbSNP | rs431905496 |
dbSNP (classic) | rs431905496 |
ClinGen | rs431905496 |
ebi | rs431905496 |
HLI | rs431905496 |
Exac | rs431905496 |
Gnomad | rs431905496 |
Varsome | rs431905496 |
LitVar | rs431905496 |
Map | rs431905496 |
PheGenI | rs431905496 |
Biobank | rs431905496 |
1000 genomes | rs431905496 |
hgdp | rs431905496 |
ensembl | rs431905496 |
geneview | rs431905496 |
scholar | rs431905496 |
rs431905496 | |
pharmgkb | rs431905496 |
gwascentral | rs431905496 |
openSNP | rs431905496 |
23andMe | rs431905496 |
SNPshot | rs431905496 |
SNPdbe | rs431905496 |
MSV3d | rs431905496 |
GWAS Ctlg | rs431905496 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905496(G;G) |
Alt | rs431905496(G;G) |
Reference | Rs431905496(T;T) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis type VI |
Variation | info |
Gene | ARSB |
CLNDBN | Mucopolysaccharidosis type VI |
Reversed | 1 |
HGVS | NC_000005.9:g.78135257A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000936.6, |