rs137852899
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137852899(A;A) |
Make rs137852899(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101764236 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs137852899 |
dbSNP (classic) | rs137852899 |
ClinGen | rs137852899 |
ebi | rs137852899 |
HLI | rs137852899 |
Exac | rs137852899 |
Gnomad | rs137852899 |
Varsome | rs137852899 |
LitVar | rs137852899 |
Map | rs137852899 |
PheGenI | rs137852899 |
Biobank | rs137852899 |
1000 genomes | rs137852899 |
hgdp | rs137852899 |
ensembl | rs137852899 |
geneview | rs137852899 |
scholar | rs137852899 |
rs137852899 | |
pharmgkb | rs137852899 |
gwascentral | rs137852899 |
openSNP | rs137852899 |
23andMe | rs137852899 |
SNPshot | rs137852899 |
SNPdbe | rs137852899 |
MSV3d | rs137852899 |
GWAS Ctlg | rs137852899 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852899(A;A) |
Alt | rs137852899(A;A) |
Reference | Rs137852899(G;G) |
Significance | Pathogenic |
Disease | I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | I cell disease |
Reversed | 1 |
HGVS | NC_000012.11:g.102158014C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002895.5, |
[PMID 16116615] Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.