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rs1057517175

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517175(G;T)
Make rs1057517175(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position177436275
GeneAGA
is asnp
is mentioned by
dbSNPrs1057517175
dbSNP (old)rs1057517175
ClinGenrs1057517175
ebirs1057517175
HLIrs1057517175
Exacrs1057517175
Gnomadrs1057517175
Varsomers1057517175
Maprs1057517175
PheGenIrs1057517175
Biobankrs1057517175
1000 genomesrs1057517175
hgdprs1057517175
ensemblrs1057517175
gopubmedrs1057517175
geneviewrs1057517175
scholarrs1057517175
googlers1057517175
pharmgkbrs1057517175
gwascentralrs1057517175
openSNPrs1057517175
23andMers1057517175
23andMe allrs1057517175
SNPshotrs1057517175
SNPdbers1057517175
MSV3drs1057517175
GWAS Ctlgrs1057517175
Max Magnitude0
ClinVar
Risk rs1057517175(T;T)
Alt rs1057517175(T;T)
Reference Rs1057517175(G;G)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178357429C>A
CLNSRC
CLNACC RCV000409628.1,