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rs794727706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTT;AGTT) 0 common in clinvar
(I;I) 0 common genotype
(TTAG;TTAG) 0 common in clinvar
Make rs794727706(-;-)
Make rs794727706(-;TTAG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position99864460
GeneAGL
is asnp
is mentioned by
dbSNPrs794727706
dbSNP (classic)rs794727706
ClinGenrs794727706
ebirs794727706
HLIrs794727706
Exacrs794727706
Gnomadrs794727706
Varsomers794727706
LitVarrs794727706
Maprs794727706
PheGenIrs794727706
Biobankrs794727706
1000 genomesrs794727706
hgdprs794727706
ensemblrs794727706
geneviewrs794727706
scholarrs794727706
googlers794727706
pharmgkbrs794727706
gwascentralrs794727706
openSNPrs794727706
23andMers794727706
SNPshotrs794727706
SNPdbers794727706
MSV3drs794727706
GWAS Ctlgrs794727706
Max Magnitude0
ClinVar
Risk rs794727706(-;-) Rs794727706(AGTT;AGTT)
Alt rs794727706(-;-) Rs794727706(AGTT;AGTT)
Reference Rs794727706(TTAG;TTAG)
Significance Pathogenic
Disease Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100330016_100330019delTTAG
CLNSRC
CLNACC RCV000178792.1,