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rs1057516254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516254(C;T)
Make rs1057516254(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position99884627
GeneAGL
is asnp
is mentioned by
dbSNPrs1057516254
dbSNP (old)rs1057516254
ClinGenrs1057516254
ebirs1057516254
HLIrs1057516254
Exacrs1057516254
Gnomadrs1057516254
Varsomers1057516254
Maprs1057516254
PheGenIrs1057516254
Biobankrs1057516254
1000 genomesrs1057516254
hgdprs1057516254
ensemblrs1057516254
gopubmedrs1057516254
geneviewrs1057516254
scholarrs1057516254
googlers1057516254
pharmgkbrs1057516254
gwascentralrs1057516254
openSNPrs1057516254
23andMers1057516254
23andMe allrs1057516254
SNPshotrs1057516254
SNPdbers1057516254
MSV3drs1057516254
GWAS Ctlgrs1057516254
Max Magnitude0
ClinVar
Risk rs1057516254(T;T)
Alt rs1057516254(T;T)
Reference Rs1057516254(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.100350183C>T
CLNSRC
CLNACC RCV000409250.1,