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rs1057517239

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517239(-;-)
Make rs1057517239(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position177442306
GeneAGA, LOC285500
is asnp
is mentioned by
dbSNPrs1057517239
dbSNP (old)rs1057517239
ClinGenrs1057517239
ebirs1057517239
HLIrs1057517239
Exacrs1057517239
Gnomadrs1057517239
Varsomers1057517239
Maprs1057517239
PheGenIrs1057517239
Biobankrs1057517239
1000 genomesrs1057517239
hgdprs1057517239
ensemblrs1057517239
gopubmedrs1057517239
geneviewrs1057517239
scholarrs1057517239
googlers1057517239
pharmgkbrs1057517239
gwascentralrs1057517239
openSNPrs1057517239
23andMers1057517239
23andMe allrs1057517239
SNPshotrs1057517239
SNPdbers1057517239
MSV3drs1057517239
GWAS Ctlgrs1057517239
Max Magnitude0
ClinVar
Risk rs1057517239(-;-)
Alt rs1057517239(-;-)
Reference Rs1057517239(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178363460delA
CLNSRC
CLNACC RCV000409106.1,