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rs193186112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193186112(C;T)
Make rs193186112(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position99861676
GeneAGL
is asnp
is mentioned by
dbSNPrs193186112
dbSNP (classic)rs193186112
ClinGenrs193186112
ebirs193186112
HLIrs193186112
Exacrs193186112
Gnomadrs193186112
Varsomers193186112
LitVarrs193186112
Maprs193186112
PheGenIrs193186112
Biobankrs193186112
1000 genomesrs193186112
hgdprs193186112
ensemblrs193186112
geneviewrs193186112
scholarrs193186112
googlers193186112
pharmgkbrs193186112
gwascentralrs193186112
openSNPrs193186112
23andMers193186112
SNPshotrs193186112
SNPdbers193186112
MSV3drs193186112
GWAS Ctlgrs193186112
Max Magnitude0
ClinVar
Risk rs193186112(T;T)
Alt rs193186112(T;T)
Reference Rs193186112(C;C)
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.100327232C>T
CLNSRC
CLNACC RCV000177086.1,