rs386833429

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs386833429(G;G)

Make rs386833429(G;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

177442332

Gene	AGA, LOC285500

is a	snp
is	mentioned by
dbSNP	rs386833429
dbSNP (classic)	rs386833429
ClinGen	rs386833429
ebi	rs386833429
HLI	rs386833429
Exac	rs386833429
Gnomad	rs386833429
Varsome	rs386833429
LitVar	rs386833429
Map	rs386833429
PheGenI	rs386833429
Biobank	rs386833429
1000 genomes	rs386833429
hgdp	rs386833429
ensembl	rs386833429
geneview	rs386833429
scholar	rs386833429
google	rs386833429
pharmgkb	rs386833429
gwascentral	rs386833429
openSNP	rs386833429
23andMe	rs386833429
SNPshot	rs386833429
SNPdbe	rs386833429
MSV3d	rs386833429
GWAS Ctlg	rs386833429

Max Magnitude

0

ClinVar
Risk	rs386833429(G;G)
Alt	rs386833429(G;G)
Reference	Rs386833429(T;T)
Significance	Probable-Pathogenic
Disease	Aspartylglycosaminuria
Variation	info
Gene	AGA LOC285500
CLNDBN	Aspartylglycosaminuria
Reversed	1
HGVS	NC_000004.11:g.178363486A>C
CLNSRC	ClinVar
CLNACC	RCV000049357.1,

[PMID 15365992] A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.