rs281865026
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865026(C;T) |
Make rs281865026(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101770109 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs281865026 |
dbSNP (classic) | rs281865026 |
ClinGen | rs281865026 |
ebi | rs281865026 |
HLI | rs281865026 |
Exac | rs281865026 |
Gnomad | rs281865026 |
Varsome | rs281865026 |
LitVar | rs281865026 |
Map | rs281865026 |
PheGenI | rs281865026 |
Biobank | rs281865026 |
1000 genomes | rs281865026 |
hgdp | rs281865026 |
ensembl | rs281865026 |
geneview | rs281865026 |
scholar | rs281865026 |
rs281865026 | |
pharmgkb | rs281865026 |
gwascentral | rs281865026 |
openSNP | rs281865026 |
23andMe | rs281865026 |
SNPshot | rs281865026 |
SNPdbe | rs281865026 |
MSV3d | rs281865026 |
GWAS Ctlg | rs281865026 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865026(T;T) |
Alt | rs281865026(T;T) |
Reference | Rs281865026(C;C) |
Significance | Pathogenic |
Disease | Pseudo-Hurler polydystrophy |
Variation | info |
Gene | GNPTAB |
CLNDBN | Pseudo-Hurler polydystrophy |
Reversed | 1 |
HGVS | NC_000012.11:g.102163887G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000031967.2, |
[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.