rs137852895
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137852895(A;G) |
Make rs137852895(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101770085 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs137852895 |
dbSNP (classic) | rs137852895 |
ClinGen | rs137852895 |
ebi | rs137852895 |
HLI | rs137852895 |
Exac | rs137852895 |
Gnomad | rs137852895 |
Varsome | rs137852895 |
LitVar | rs137852895 |
Map | rs137852895 |
PheGenI | rs137852895 |
Biobank | rs137852895 |
1000 genomes | rs137852895 |
hgdp | rs137852895 |
ensembl | rs137852895 |
geneview | rs137852895 |
scholar | rs137852895 |
rs137852895 | |
pharmgkb | rs137852895 |
gwascentral | rs137852895 |
openSNP | rs137852895 |
23andMe | rs137852895 |
SNPshot | rs137852895 |
SNPdbe | rs137852895 |
MSV3d | rs137852895 |
GWAS Ctlg | rs137852895 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852895(C;C) rs137852895(G;G) |
Alt | rs137852895(C;C) rs137852895(G;G) |
Reference | Rs137852895(A;A) |
Significance | Pathogenic |
Disease | Pseudo-Hurler polydystrophy |
Variation | info |
Gene | GNPTAB |
CLNDBN | Pseudo-Hurler polydystrophy |
Reversed | 1 |
HGVS | NC_000012.11:g.102163863T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002889.4, |
[PMID 16094673] Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.