rs281864993
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs281864993(-;-) |
| Make rs281864993(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 101764495 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281864993 |
| dbSNP (classic) | rs281864993 |
| ClinGen | rs281864993 |
| ebi | rs281864993 |
| HLI | rs281864993 |
| Exac | rs281864993 |
| Gnomad | rs281864993 |
| Varsome | rs281864993 |
| LitVar | rs281864993 |
| Map | rs281864993 |
| PheGenI | rs281864993 |
| Biobank | rs281864993 |
| 1000 genomes | rs281864993 |
| hgdp | rs281864993 |
| ensembl | rs281864993 |
| geneview | rs281864993 |
| scholar | rs281864993 |
| rs281864993 | |
| pharmgkb | rs281864993 |
| gwascentral | rs281864993 |
| openSNP | rs281864993 |
| 23andMe | rs281864993 |
| SNPshot | rs281864993 |
| SNPdbe | rs281864993 |
| MSV3d | rs281864993 |
| GWAS Ctlg | rs281864993 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281864993(-;-) |
| Alt | rs281864993(-;-) |
| Reference | Rs281864993(C;C) |
| Significance | Pathogenic |
| Disease | I cell disease |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | I cell disease |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102158273delG |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032316.1, |
[PMID 21416587] A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
