rs398123429
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
Make rs398123429(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 88824838 |
Gene | GALNS, LOC107987238 |
is a | snp |
is | mentioned by |
dbSNP | rs398123429 |
dbSNP (classic) | rs398123429 |
ClinGen | rs398123429 |
ebi | rs398123429 |
HLI | rs398123429 |
Exac | rs398123429 |
Gnomad | rs398123429 |
Varsome | rs398123429 |
LitVar | rs398123429 |
Map | rs398123429 |
PheGenI | rs398123429 |
Biobank | rs398123429 |
1000 genomes | rs398123429 |
hgdp | rs398123429 |
ensembl | rs398123429 |
geneview | rs398123429 |
scholar | rs398123429 |
rs398123429 | |
pharmgkb | rs398123429 |
gwascentral | rs398123429 |
openSNP | rs398123429 |
23andMe | rs398123429 |
SNPshot | rs398123429 |
SNPdbe | rs398123429 |
MSV3d | rs398123429 |
GWAS Ctlg | rs398123429 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs398123429(G;G) |
Alt | rs398123429(G;G) |
Reference | Rs398123429(A;A) |
Significance | Pathogenic |
Disease | not provided Mucopolysaccharidosis |
Variation | info |
Gene | GALNS |
CLNDBN | not provided Mucopolysaccharidosis, MPS-IV-A |
Reversed | 1 |
HGVS | NC_000016.9:g.88891246T>C |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000079020.3, RCV000174006.1, |