rs34517004
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs34517004(-;-) |
Make rs34517004(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101771081 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs34517004 |
dbSNP (classic) | rs34517004 |
ClinGen | rs34517004 |
ebi | rs34517004 |
HLI | rs34517004 |
Exac | rs34517004 |
Gnomad | rs34517004 |
Varsome | rs34517004 |
LitVar | rs34517004 |
Map | rs34517004 |
PheGenI | rs34517004 |
Biobank | rs34517004 |
1000 genomes | rs34517004 |
hgdp | rs34517004 |
ensembl | rs34517004 |
geneview | rs34517004 |
scholar | rs34517004 |
rs34517004 | |
pharmgkb | rs34517004 |
gwascentral | rs34517004 |
openSNP | rs34517004 |
23andMe | rs34517004 |
SNPshot | rs34517004 |
SNPdbe | rs34517004 |
MSV3d | rs34517004 |
GWAS Ctlg | rs34517004 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34517004(-;-) |
Alt | rs34517004(-;-) |
Reference | Rs34517004(A;A) |
Significance | Pathogenic |
Disease | I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | I cell disease |
Reversed | 1 |
HGVS | NC_000012.11:g.102164859delT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031992.2, |
[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.