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rs201201443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201201443(A;A)
Make rs201201443(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position99884704
GeneAGL
is asnp
is mentioned by
dbSNPrs201201443
dbSNP (old)rs201201443
ClinGenrs201201443
ebirs201201443
HLIrs201201443
Exacrs201201443
Gnomadrs201201443
Varsomers201201443
LitVarrs201201443
Maprs201201443
PheGenIrs201201443
Biobankrs201201443
1000 genomesrs201201443
hgdprs201201443
ensemblrs201201443
gopubmedrs201201443
geneviewrs201201443
scholarrs201201443
googlers201201443
pharmgkbrs201201443
gwascentralrs201201443
openSNPrs201201443
23andMers201201443
23andMe allrs201201443
SNPshotrs201201443
SNPdbers201201443
MSV3drs201201443
GWAS Ctlgrs201201443
Max Magnitude0
ClinVar
Risk rs201201443(A;A) rs201201443(T;T)
Alt rs201201443(A;A) rs201201443(T;T)
Reference Rs201201443(G;G)
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.100350260G>A; NC_000001.10:g.100350260G>T
CLNSRC
CLNACC RCV000377764.1, RCV000411544.1,