rs483352897
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAGCGGCCA;GGAGCGGCCA) | 0 | common in clinvar |
Make rs483352897(-;-) |
Make rs483352897(-;GGAGCGGCCA) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 42537517 |
Gene | NAGLU |
is a | snp |
is | mentioned by |
dbSNP | rs483352897 |
dbSNP (classic) | rs483352897 |
ClinGen | rs483352897 |
ebi | rs483352897 |
HLI | rs483352897 |
Exac | rs483352897 |
Gnomad | rs483352897 |
Varsome | rs483352897 |
LitVar | rs483352897 |
Map | rs483352897 |
PheGenI | rs483352897 |
Biobank | rs483352897 |
1000 genomes | rs483352897 |
hgdp | rs483352897 |
ensembl | rs483352897 |
geneview | rs483352897 |
scholar | rs483352897 |
rs483352897 | |
pharmgkb | rs483352897 |
gwascentral | rs483352897 |
openSNP | rs483352897 |
23andMe | rs483352897 |
SNPshot | rs483352897 |
SNPdbe | rs483352897 |
MSV3d | rs483352897 |
GWAS Ctlg | rs483352897 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352897(-;-) |
Alt | rs483352897(-;-) |
Reference | Rs483352897(GGAGCGGCCA;GGAGCGGCCA) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | NAGLU |
CLNDBN | Mucopolysaccharidosis, MPS-III-B |
Reversed | 0 |
HGVS | NC_000017.10:g.40689535_40689544delGGAGCGGCCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001630.4, |