rs281865039
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281865039(-;A) |
Make rs281865039(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101753407 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs281865039 |
dbSNP (classic) | rs281865039 |
ClinGen | rs281865039 |
ebi | rs281865039 |
HLI | rs281865039 |
Exac | rs281865039 |
Gnomad | rs281865039 |
Varsome | rs281865039 |
LitVar | rs281865039 |
Map | rs281865039 |
PheGenI | rs281865039 |
Biobank | rs281865039 |
1000 genomes | rs281865039 |
hgdp | rs281865039 |
ensembl | rs281865039 |
geneview | rs281865039 |
scholar | rs281865039 |
rs281865039 | |
pharmgkb | rs281865039 |
gwascentral | rs281865039 |
openSNP | rs281865039 |
23andMe | rs281865039 |
SNPshot | rs281865039 |
SNPdbe | rs281865039 |
MSV3d | rs281865039 |
GWAS Ctlg | rs281865039 |
Merged from | Rs587777913 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865039(A;A) |
Alt | rs281865039(A;A) |
Reference | Rs281865039(-;-) |
Significance | Pathogenic |
Disease | I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | I cell disease |
Reversed | 1 |
HGVS | NC_000012.11:g.102147185dupT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031985.2, |
[PMID 16200072] Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.