rs886043792
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 17 |
Position | 42538685 |
Gene | NAGLU |
is a | snp |
is | mentioned by |
dbSNP | rs886043792 |
dbSNP (classic) | rs886043792 |
ClinGen | rs886043792 |
ebi | rs886043792 |
HLI | rs886043792 |
Exac | rs886043792 |
Gnomad | rs886043792 |
Varsome | rs886043792 |
LitVar | rs886043792 |
Map | rs886043792 |
PheGenI | rs886043792 |
Biobank | rs886043792 |
1000 genomes | rs886043792 |
hgdp | rs886043792 |
ensembl | rs886043792 |
geneview | rs886043792 |
scholar | rs886043792 |
rs886043792 | |
pharmgkb | rs886043792 |
gwascentral | rs886043792 |
openSNP | rs886043792 |
23andMe | rs886043792 |
SNPshot | rs886043792 |
SNPdbe | rs886043792 |
MSV3d | rs886043792 |
GWAS Ctlg | rs886043792 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043792(T;T) |
Alt | rs886043792(T;T) |
Reference | Rs886043792(C;C) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | NAGLU |
CLNDBN | Mucopolysaccharidosis, MPS-III-B |
Reversed | 0 |
HGVS | NC_000017.10:g.40690703C>T |
CLNSRC | |
CLNACC | RCV000332868.1, |