rs281864964
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281864964(-;A) |
Make rs281864964(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101780173 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs281864964 |
dbSNP (classic) | rs281864964 |
ClinGen | rs281864964 |
ebi | rs281864964 |
HLI | rs281864964 |
Exac | rs281864964 |
Gnomad | rs281864964 |
Varsome | rs281864964 |
LitVar | rs281864964 |
Map | rs281864964 |
PheGenI | rs281864964 |
Biobank | rs281864964 |
1000 genomes | rs281864964 |
hgdp | rs281864964 |
ensembl | rs281864964 |
geneview | rs281864964 |
scholar | rs281864964 |
rs281864964 | |
pharmgkb | rs281864964 |
gwascentral | rs281864964 |
openSNP | rs281864964 |
23andMe | rs281864964 |
SNPshot | rs281864964 |
SNPdbe | rs281864964 |
MSV3d | rs281864964 |
GWAS Ctlg | rs281864964 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281864964(A;A) |
Alt | rs281864964(A;A) |
Reference | Rs281864964(-;-) |
Significance | Pathogenic |
Disease | I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | I cell disease |
Reversed | 1 |
HGVS | NC_000012.11:g.102173952dupT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032354.2, |
[PMID 19634183] Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.