rs886039894
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs886039894(-;-) |
Make rs886039894(-;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 42537494 |
Gene | NAGLU |
is a | snp |
is | mentioned by |
dbSNP | rs886039894 |
dbSNP (classic) | rs886039894 |
ClinGen | rs886039894 |
ebi | rs886039894 |
HLI | rs886039894 |
Exac | rs886039894 |
Gnomad | rs886039894 |
Varsome | rs886039894 |
LitVar | rs886039894 |
Map | rs886039894 |
PheGenI | rs886039894 |
Biobank | rs886039894 |
1000 genomes | rs886039894 |
hgdp | rs886039894 |
ensembl | rs886039894 |
geneview | rs886039894 |
scholar | rs886039894 |
rs886039894 | |
pharmgkb | rs886039894 |
gwascentral | rs886039894 |
openSNP | rs886039894 |
23andMe | rs886039894 |
SNPshot | rs886039894 |
SNPdbe | rs886039894 |
MSV3d | rs886039894 |
GWAS Ctlg | rs886039894 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039894(-;-) |
Alt | rs886039894(-;-) |
Reference | Rs886039894(T;T) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | NAGLU |
CLNDBN | Mucopolysaccharidosis, MPS-III-B |
Reversed | 0 |
HGVS | NC_000017.10:g.40689512delT |
CLNSRC | |
CLNACC | RCV000256392.1, |