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rs2228119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs2228119(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177438806
GeneAGA
is asnp
is mentioned by
dbSNPrs2228119
ebirs2228119
HLIrs2228119
Exacrs2228119
Varsomers2228119
Maprs2228119
PheGenIrs2228119
hapmaprs2228119
1000 genomesrs2228119
hgdprs2228119
ensemblrs2228119
gopubmedrs2228119
geneviewrs2228119
scholarrs2228119
googlers2228119
pharmgkbrs2228119
gwascentralrs2228119
openSNPrs2228119
23andMers2228119
23andMe allrs2228119
SNP Nexus

SNPshotrs2228119
SNPdbers2228119
MSV3drs2228119
GWAS Ctlgrs2228119
GMAF0.06566
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene AGA
allele C
frequency
sift TOLERATED
HuRef 1103654636233
Disease Association Defects in AGA are the cause of aspartylglucosaminuria (AGU) (MIM:208400). AGU is an inborn lysosomal storage disease. Clinical features of AGU include mild to severe mental retardation manifesting from the age of 2, coarse facial features and mild connective tissue abnormalities. This recessively inherited disease is overrepresented in the Finnish population.



GET Evidence
AGA-T149S
aa_change Thr149Ser
aa_change_short T149S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.923499
summary



ClinVar
Risk rs2228119(G;G)
Alt rs2228119(G;G)
Reference rs2228119(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene AGA
CLNDBN not specified
Reversed 1
HGVS NC_000004.11:g.178359960G>C
CLNSRC ClinVar Emory University
CLNACC RCV000077944.4,