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.