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rs386834236

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834236(G;G)
Make rs386834236(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80104542
GeneGAA
is asnp
is mentioned by
dbSNPrs386834236
ebirs386834236
HLIrs386834236
Exacrs386834236
Varsomers386834236
Maprs386834236
PheGenIrs386834236
hapmaprs386834236
1000 genomesrs386834236
hgdprs386834236
ensemblrs386834236
gopubmedrs386834236
geneviewrs386834236
scholarrs386834236
googlers386834236
pharmgkbrs386834236
gwascentralrs386834236
openSNPrs386834236
23andMers386834236
23andMe allrs386834236
SNP Nexus

SNPshotrs386834236
SNPdbers386834236
MSV3drs386834236
GWAS Ctlgrs386834236
Max Magnitude0
ClinVar
Risk rs386834236(G;G)
Alt rs386834236(G;G)
Reference rs386834236(T;T)
Significance Pathogenic
Disease Glycogen storage disease II Glycogen storage disease not provided Inborn genetic diseases
Variation info
Gene GAA
CLNDBN Glycogen storage disease II, adult form Glycogen storage disease, type II not provided Inborn genetic diseases
Reversed 0
HGVS NC_000017.10:g.78078341T>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004242.4, RCV000055770.2, RCV000153285.3, RCV000210721.1,