rs104894598
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894598(C;C) |
Make rs104894598(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 42543700 |
Gene | NAGLU |
is a | snp |
is | mentioned by |
dbSNP | rs104894598 |
dbSNP (classic) | rs104894598 |
ClinGen | rs104894598 |
ebi | rs104894598 |
HLI | rs104894598 |
Exac | rs104894598 |
Gnomad | rs104894598 |
Varsome | rs104894598 |
LitVar | rs104894598 |
Map | rs104894598 |
PheGenI | rs104894598 |
Biobank | rs104894598 |
1000 genomes | rs104894598 |
hgdp | rs104894598 |
ensembl | rs104894598 |
geneview | rs104894598 |
scholar | rs104894598 |
rs104894598 | |
pharmgkb | rs104894598 |
gwascentral | rs104894598 |
openSNP | rs104894598 |
23andMe | rs104894598 |
SNPshot | rs104894598 |
SNPdbe | rs104894598 |
MSV3d | rs104894598 |
GWAS Ctlg | rs104894598 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894598(A;A) rs104894598(C;C) rs104894598(T;T) |
Alt | rs104894598(A;A) rs104894598(C;C) rs104894598(T;T) |
Reference | Rs104894598(G;G) |
Significance | Other |
Disease | Mucopolysaccharidosis not provided |
Variation | info |
Gene | NAGLU |
CLNDBN | Mucopolysaccharidosis, MPS-III-B not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.40695718G>A; NC_000017.10:g.40695718G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023780.5, RCV000433629.1, RCV000001634.4, |