rs386833418

Orientation

minus

Stabilized

minus

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

Make rs386833418(-;ATGCGG)

Make rs386833418(ATGCGG;ATGCGG)

Reference

GRCh38 38.1/141

Chromosome

4

Position

177442248

Gene	AGA, LOC285500

is a	snp
is	mentioned by
dbSNP	rs386833418
dbSNP (classic)	rs386833418
ClinGen	rs386833418
ebi	rs386833418
HLI	rs386833418
Exac	rs386833418
Gnomad	rs386833418
Varsome	rs386833418
LitVar	rs386833418
Map	rs386833418
PheGenI	rs386833418
Biobank	rs386833418
1000 genomes	rs386833418
hgdp	rs386833418
ensembl	rs386833418
geneview	rs386833418
scholar	rs386833418
google	rs386833418
pharmgkb	rs386833418
gwascentral	rs386833418
openSNP	rs386833418
23andMe	rs386833418
SNPshot	rs386833418
SNPdbe	rs386833418
MSV3d	rs386833418
GWAS Ctlg	rs386833418

Max Magnitude

0

ClinVar
Risk	rs386833418(ATGCGG;ATGCGG)
Alt	rs386833418(ATGCGG;ATGCGG)
Reference	Rs386833418(-;-)
Significance	Other
Disease	Aspartylglycosaminuria
Variation	info
Gene	AGA LOC285500
CLNDBN	Aspartylglycosaminuria
Reversed	1
HGVS	NC_000004.11:g.178363402_178363403insCCGCAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000250.6,

[PMID 1722323] Spectrum of mutations in aspartylglucosaminuria.