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rs1057517223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517223(-;-)
Make rs1057517223(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position177439637
GeneAGA
is asnp
is mentioned by
dbSNPrs1057517223
dbSNP (classic)rs1057517223
ClinGenrs1057517223
ebirs1057517223
HLIrs1057517223
Exacrs1057517223
Gnomadrs1057517223
Varsomers1057517223
LitVarrs1057517223
Maprs1057517223
PheGenIrs1057517223
Biobankrs1057517223
1000 genomesrs1057517223
hgdprs1057517223
ensemblrs1057517223
geneviewrs1057517223
scholarrs1057517223
googlers1057517223
pharmgkbrs1057517223
gwascentralrs1057517223
openSNPrs1057517223
23andMers1057517223
23andMe allrs1057517223
SNPshotrs1057517223
SNPdbers1057517223
MSV3drs1057517223
GWAS Ctlgrs1057517223
Max Magnitude0
ClinVar
Risk rs1057517223(-;-)
Alt rs1057517223(-;-)
Reference Rs1057517223(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360791delA
CLNSRC
CLNACC RCV000410049.1,