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rs1057517062

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517062(-;-)
Make rs1057517062(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position177442348
GeneAGA, LOC285500
is asnp
is mentioned by
dbSNPrs1057517062
dbSNP (old)rs1057517062
ClinGenrs1057517062
ebirs1057517062
HLIrs1057517062
Exacrs1057517062
Gnomadrs1057517062
Varsomers1057517062
Maprs1057517062
PheGenIrs1057517062
Biobankrs1057517062
1000 genomesrs1057517062
hgdprs1057517062
ensemblrs1057517062
gopubmedrs1057517062
geneviewrs1057517062
scholarrs1057517062
googlers1057517062
pharmgkbrs1057517062
gwascentralrs1057517062
openSNPrs1057517062
23andMers1057517062
23andMe allrs1057517062
SNP Nexus

SNPshotrs1057517062
SNPdbers1057517062
MSV3drs1057517062
GWAS Ctlgrs1057517062
Max Magnitude0
ClinVar
Risk rs1057517062(-;-)
Alt rs1057517062(-;-)
Reference Rs1057517062(C;C)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178363502delG
CLNSRC
CLNACC RCV000411313.1,