rs138390866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138390866(A;A) |
Make rs138390866(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101761615 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs138390866 |
dbSNP (classic) | rs138390866 |
ClinGen | rs138390866 |
ebi | rs138390866 |
HLI | rs138390866 |
Exac | rs138390866 |
Gnomad | rs138390866 |
Varsome | rs138390866 |
LitVar | rs138390866 |
Map | rs138390866 |
PheGenI | rs138390866 |
Biobank | rs138390866 |
1000 genomes | rs138390866 |
hgdp | rs138390866 |
ensembl | rs138390866 |
geneview | rs138390866 |
scholar | rs138390866 |
rs138390866 | |
pharmgkb | rs138390866 |
gwascentral | rs138390866 |
openSNP | rs138390866 |
23andMe | rs138390866 |
SNPshot | rs138390866 |
SNPdbe | rs138390866 |
MSV3d | rs138390866 |
GWAS Ctlg | rs138390866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138390866(A;A) |
Alt | rs138390866(A;A) |
Reference | Rs138390866(G;G) |
Significance | Pathogenic |
Disease | I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | I cell disease |
Reversed | 0 |
HGVS | NC_000012.11:g.102155393G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000032360.1, |
[PMID 19938078] Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.