rs527236038
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs527236038(G;T) |
Make rs527236038(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 42543952 |
Gene | NAGLU |
is a | snp |
is | mentioned by |
dbSNP | rs527236038 |
dbSNP (classic) | rs527236038 |
ClinGen | rs527236038 |
ebi | rs527236038 |
HLI | rs527236038 |
Exac | rs527236038 |
Gnomad | rs527236038 |
Varsome | rs527236038 |
LitVar | rs527236038 |
Map | rs527236038 |
PheGenI | rs527236038 |
Biobank | rs527236038 |
1000 genomes | rs527236038 |
hgdp | rs527236038 |
ensembl | rs527236038 |
geneview | rs527236038 |
scholar | rs527236038 |
rs527236038 | |
pharmgkb | rs527236038 |
gwascentral | rs527236038 |
openSNP | rs527236038 |
23andMe | rs527236038 |
SNPshot | rs527236038 |
SNPdbe | rs527236038 |
MSV3d | rs527236038 |
GWAS Ctlg | rs527236038 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236038(C;C) rs527236038(T;T) |
Alt | rs527236038(C;C) rs527236038(T;T) |
Reference | Rs527236038(G;G) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | NAGLU |
CLNDBN | Mucopolysaccharidosis, MPS-III-B |
Reversed | 0 |
HGVS | NC_000017.10:g.40695970G>T |
CLNSRC | ClinVar |
CLNACC | RCV000132721.1, |