rs797044751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044751(-;A) |
Make rs797044751(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 42541129 |
Gene | NAGLU |
is a | snp |
is | mentioned by |
dbSNP | rs797044751 |
dbSNP (classic) | rs797044751 |
ClinGen | rs797044751 |
ebi | rs797044751 |
HLI | rs797044751 |
Exac | rs797044751 |
Gnomad | rs797044751 |
Varsome | rs797044751 |
LitVar | rs797044751 |
Map | rs797044751 |
PheGenI | rs797044751 |
Biobank | rs797044751 |
1000 genomes | rs797044751 |
hgdp | rs797044751 |
ensembl | rs797044751 |
geneview | rs797044751 |
scholar | rs797044751 |
rs797044751 | |
pharmgkb | rs797044751 |
gwascentral | rs797044751 |
openSNP | rs797044751 |
23andMe | rs797044751 |
SNPshot | rs797044751 |
SNPdbe | rs797044751 |
MSV3d | rs797044751 |
GWAS Ctlg | rs797044751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044751(A;A) |
Alt | rs797044751(A;A) |
Reference | Rs797044751(-;-) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | NAGLU |
CLNDBN | Mucopolysaccharidosis, MPS-III-B |
Reversed | 0 |
HGVS | NC_000017.10:g.40693147dupA |
CLNSRC | |
CLNACC | RCV000178741.1, |