rs34901902
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTCAA;CTCAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TCAAC;TCAAC) | 0 | common in clinvar |
Make rs34901902(-;-) |
Make rs34901902(-;ACTCA) |
Make rs34901902(ACTCA;ACTCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101764862 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs34901902 |
dbSNP (classic) | rs34901902 |
ClinGen | rs34901902 |
ebi | rs34901902 |
HLI | rs34901902 |
Exac | rs34901902 |
Gnomad | rs34901902 |
Varsome | rs34901902 |
LitVar | rs34901902 |
Map | rs34901902 |
PheGenI | rs34901902 |
Biobank | rs34901902 |
1000 genomes | rs34901902 |
hgdp | rs34901902 |
ensembl | rs34901902 |
geneview | rs34901902 |
scholar | rs34901902 |
rs34901902 | |
pharmgkb | rs34901902 |
gwascentral | rs34901902 |
openSNP | rs34901902 |
23andMe | rs34901902 |
SNPshot | rs34901902 |
SNPdbe | rs34901902 |
MSV3d | rs34901902 |
GWAS Ctlg | rs34901902 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34901902(-;-) |
Alt | rs34901902(-;-) |
Reference | Rs34901902(TCAAC;TCAAC) |
Significance | Pathogenic |
Disease | Mucopolysaccharidosis |
Variation | info |
Gene | GNPTAB |
CLNDBN | Mucopolysaccharidosis, MPS-III-A |
Reversed | 1 |
HGVS | NC_000012.11:g.102158640_102158644delTGAGT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031971.2, |
[PMID 16465621] Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.