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rs1057516741

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TAAC;TAAC) 0 common in clinvar
Make rs1057516741(-;-)
Make rs1057516741(-;ACTA)
Make rs1057516741(ACTA;ACTA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99875240
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516741
dbSNP (old)rs1057516741
ClinGenrs1057516741
ebirs1057516741
HLIrs1057516741
Exacrs1057516741
Gnomadrs1057516741
Varsomers1057516741
Maprs1057516741
PheGenIrs1057516741
Biobankrs1057516741
1000 genomesrs1057516741
hgdprs1057516741
ensemblrs1057516741
gopubmedrs1057516741
geneviewrs1057516741
scholarrs1057516741
googlers1057516741
pharmgkbrs1057516741
gwascentralrs1057516741
openSNPrs1057516741
23andMers1057516741
23andMe allrs1057516741
SNPshotrs1057516741
SNPdbers1057516741
MSV3drs1057516741
GWAS Ctlgrs1057516741
Max Magnitude0
ClinVar
Risk rs1057516741(-;-)
Alt rs1057516741(-;-)
Reference Rs1057516741(TAAC;TAAC)
Significance Probable-Pathogenic
Disease Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100340796_100340799delACTA
CLNSRC
CLNACC RCV000409510.1,