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rs386833418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833418(-;-)
Make rs386833418(-;ATGCGG)
Make rs386833418(ATGCGG;ATGCGG)
ReferenceGRCh38 38.1/141
Chromosome4
Position177442248
GeneAGA
is asnp
is mentioned by
dbSNPrs386833418
ebirs386833418
HLIrs386833418
Exacrs386833418
Varsomers386833418
Maprs386833418
PheGenIrs386833418
hapmaprs386833418
1000 genomesrs386833418
hgdprs386833418
ensemblrs386833418
gopubmedrs386833418
geneviewrs386833418
scholarrs386833418
googlers386833418
pharmgkbrs386833418
gwascentralrs386833418
openSNPrs386833418
23andMers386833418
23andMe allrs386833418
SNP Nexus

SNPshotrs386833418
SNPdbers386833418
MSV3drs386833418
GWAS Ctlgrs386833418
Max Magnitude0
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 1722323OA-icon.png] Spectrum of mutations in aspartylglucosaminuria.