rs746756997
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs746756997(A;C) |
Make rs746756997(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 88832047 |
Gene | GALNS |
is a | snp |
is | mentioned by |
dbSNP | rs746756997 |
dbSNP (classic) | rs746756997 |
ClinGen | rs746756997 |
ebi | rs746756997 |
HLI | rs746756997 |
Exac | rs746756997 |
Gnomad | rs746756997 |
Varsome | rs746756997 |
LitVar | rs746756997 |
Map | rs746756997 |
PheGenI | rs746756997 |
Biobank | rs746756997 |
1000 genomes | rs746756997 |
hgdp | rs746756997 |
ensembl | rs746756997 |
geneview | rs746756997 |
scholar | rs746756997 |
rs746756997 | |
pharmgkb | rs746756997 |
gwascentral | rs746756997 |
openSNP | rs746756997 |
23andMe | rs746756997 |
SNPshot | rs746756997 |
SNPdbe | rs746756997 |
MSV3d | rs746756997 |
GWAS Ctlg | rs746756997 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746756997(C;C) |
Alt | rs746756997(C;C) |
Reference | Rs746756997(A;A) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | GALNS |
CLNDBN | Mucopolysaccharidosis, MPS-IV-A |
Reversed | 0 |
HGVS | NC_000016.9:g.88898455A>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000180514.1, |