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rs1057517329

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517329(C;T)
Make rs1057517329(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position177438762
GeneAGA
is asnp
is mentioned by
dbSNPrs1057517329
dbSNP (old)rs1057517329
ClinGenrs1057517329
ebirs1057517329
HLIrs1057517329
Exacrs1057517329
Gnomadrs1057517329
Varsomers1057517329
Maprs1057517329
PheGenIrs1057517329
Biobankrs1057517329
1000 genomesrs1057517329
hgdprs1057517329
ensemblrs1057517329
gopubmedrs1057517329
geneviewrs1057517329
scholarrs1057517329
googlers1057517329
pharmgkbrs1057517329
gwascentralrs1057517329
openSNPrs1057517329
23andMers1057517329
23andMe allrs1057517329
SNPshotrs1057517329
SNPdbers1057517329
MSV3drs1057517329
GWAS Ctlgrs1057517329
Max Magnitude0
ClinVar
Risk rs1057517329(T;T)
Alt rs1057517329(T;T)
Reference Rs1057517329(C;C)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178359916G>A
CLNSRC
CLNACC RCV000410299.1,