rs786205899
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 rs786205899(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 88837646 |
Gene | GALNS |
is a | snp |
is | mentioned by |
dbSNP | rs786205899 |
dbSNP (classic) | rs786205899 |
ClinGen | rs786205899 |
ebi | rs786205899 |
HLI | rs786205899 |
Exac | rs786205899 |
Gnomad | rs786205899 |
Varsome | rs786205899 |
LitVar | rs786205899 |
Map | rs786205899 |
PheGenI | rs786205899 |
Biobank | rs786205899 |
1000 genomes | rs786205899 |
hgdp | rs786205899 |
ensembl | rs786205899 |
geneview | rs786205899 |
scholar | rs786205899 |
rs786205899 | |
pharmgkb | rs786205899 |
gwascentral | rs786205899 |
openSNP | rs786205899 |
23andMe | rs786205899 |
SNPshot | rs786205899 |
SNPdbe | rs786205899 |
MSV3d | rs786205899 |
GWAS Ctlg | rs786205899 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs786205899(G;G) |
Alt | rs786205899(G;G) |
Reference | Rs786205899(A;A) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | GALNS |
CLNDBN | Mucopolysaccharidosis, MPS-IV-A |
Reversed | 1 |
HGVS | NC_000016.9:g.88904054T>C |
CLNSRC | |
CLNACC | RCV000172874.2, |