rs36007394
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs36007394(-;-) |
Make rs36007394(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101766123 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs36007394 |
dbSNP (classic) | rs36007394 |
ClinGen | rs36007394 |
ebi | rs36007394 |
HLI | rs36007394 |
Exac | rs36007394 |
Gnomad | rs36007394 |
Varsome | rs36007394 |
LitVar | rs36007394 |
Map | rs36007394 |
PheGenI | rs36007394 |
Biobank | rs36007394 |
1000 genomes | rs36007394 |
hgdp | rs36007394 |
ensembl | rs36007394 |
geneview | rs36007394 |
scholar | rs36007394 |
rs36007394 | |
pharmgkb | rs36007394 |
gwascentral | rs36007394 |
openSNP | rs36007394 |
23andMe | rs36007394 |
SNPshot | rs36007394 |
SNPdbe | rs36007394 |
MSV3d | rs36007394 |
GWAS Ctlg | rs36007394 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs36007394(-;-) |
Alt | rs36007394(-;-) |
Reference | Rs36007394(C;C) |
Significance | Pathogenic |
Disease | I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | I cell disease |
Reversed | 1 |
HGVS | NC_000012.11:g.102159901delG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031968.2, |
[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.