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rs1057517037

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517037(A;G)
Make rs1057517037(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position177442375
GeneAGA, LOC285500
is asnp
is mentioned by
dbSNPrs1057517037
dbSNP (old)rs1057517037
ClinGenrs1057517037
ebirs1057517037
HLIrs1057517037
Exacrs1057517037
Gnomadrs1057517037
Varsomers1057517037
Maprs1057517037
PheGenIrs1057517037
Biobankrs1057517037
1000 genomesrs1057517037
hgdprs1057517037
ensemblrs1057517037
gopubmedrs1057517037
geneviewrs1057517037
scholarrs1057517037
googlers1057517037
pharmgkbrs1057517037
gwascentralrs1057517037
openSNPrs1057517037
23andMers1057517037
23andMe allrs1057517037
SNP Nexus

SNPshotrs1057517037
SNPdbers1057517037
MSV3drs1057517037
GWAS Ctlgrs1057517037
Max Magnitude0
ClinVar
Risk rs1057517037(G;G)
Alt rs1057517037(G;G)
Reference Rs1057517037(A;A)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178363529T>C
CLNSRC
CLNACC RCV000411846.1,