rs386833423
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386833423(C;T) |
Make rs386833423(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 177439624 |
Gene | AGA |
is a | snp |
is | mentioned by |
dbSNP | rs386833423 |
dbSNP (classic) | rs386833423 |
ClinGen | rs386833423 |
ebi | rs386833423 |
HLI | rs386833423 |
Exac | rs386833423 |
Gnomad | rs386833423 |
Varsome | rs386833423 |
LitVar | rs386833423 |
Map | rs386833423 |
PheGenI | rs386833423 |
Biobank | rs386833423 |
1000 genomes | rs386833423 |
hgdp | rs386833423 |
ensembl | rs386833423 |
geneview | rs386833423 |
scholar | rs386833423 |
rs386833423 | |
pharmgkb | rs386833423 |
gwascentral | rs386833423 |
openSNP | rs386833423 |
23andMe | rs386833423 |
SNPshot | rs386833423 |
SNPdbe | rs386833423 |
MSV3d | rs386833423 |
GWAS Ctlg | rs386833423 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833423(T;T) |
Alt | rs386833423(T;T) |
Reference | Rs386833423(C;C) |
Significance | Probable-Pathogenic |
Disease | Aspartylglycosaminuria |
Variation | info |
Gene | AGA |
CLNDBN | Aspartylglycosaminuria |
Reversed | 1 |
HGVS | NC_000004.11:g.178360778G>A |
CLNSRC | ClinVar |
CLNACC | RCV000049351.1, |
[PMID 23271757] Aspartylglucosaminuria: unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.