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rs1057516913

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516913(-;-)
Make rs1057516913(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99876574
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516913
dbSNP (old)rs1057516913
ClinGenrs1057516913
ebirs1057516913
HLIrs1057516913
Exacrs1057516913
Gnomadrs1057516913
Varsomers1057516913
Maprs1057516913
PheGenIrs1057516913
Biobankrs1057516913
1000 genomesrs1057516913
hgdprs1057516913
ensemblrs1057516913
gopubmedrs1057516913
geneviewrs1057516913
scholarrs1057516913
googlers1057516913
pharmgkbrs1057516913
gwascentralrs1057516913
openSNPrs1057516913
23andMers1057516913
23andMe allrs1057516913
SNPshotrs1057516913
SNPdbers1057516913
MSV3drs1057516913
GWAS Ctlgrs1057516913
Max Magnitude0
ClinVar
Risk rs1057516913(-;-)
Alt rs1057516913(-;-)
Reference Rs1057516913(C;C)
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.100342130delC
CLNSRC
CLNACC RCV000411414.1,