Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516592

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516592(-;-)
Make rs1057516592(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99861714
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516592
dbSNP (old)rs1057516592
ClinGenrs1057516592
ebirs1057516592
HLIrs1057516592
Exacrs1057516592
Gnomadrs1057516592
Varsomers1057516592
Maprs1057516592
PheGenIrs1057516592
Biobankrs1057516592
1000 genomesrs1057516592
hgdprs1057516592
ensemblrs1057516592
gopubmedrs1057516592
geneviewrs1057516592
scholarrs1057516592
googlers1057516592
pharmgkbrs1057516592
gwascentralrs1057516592
openSNPrs1057516592
23andMers1057516592
23andMe allrs1057516592
SNPshotrs1057516592
SNPdbers1057516592
MSV3drs1057516592
GWAS Ctlgrs1057516592
Max Magnitude0
ClinVar
Risk rs1057516592(-;-)
Alt rs1057516592(-;-)
Reference Rs1057516592(G;G)
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.100327270delG
CLNSRC
CLNACC RCV000409817.1,