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rs386834235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834235(-;-)
Make rs386834235(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80105111
GeneGAA
is asnp
is mentioned by
dbSNPrs386834235
ebirs386834235
HLIrs386834235
Exacrs386834235
Varsomers386834235
Maprs386834235
PheGenIrs386834235
hapmaprs386834235
1000 genomesrs386834235
hgdprs386834235
ensemblrs386834235
gopubmedrs386834235
geneviewrs386834235
scholarrs386834235
googlers386834235
pharmgkbrs386834235
gwascentralrs386834235
openSNPrs386834235
23andMers386834235
23andMe allrs386834235
SNP Nexus

SNPshotrs386834235
SNPdbers386834235
MSV3drs386834235
GWAS Ctlgrs386834235
Max Magnitude0
ClinVar
Risk rs386834235(;)
Alt rs386834235(;)
Reference rs386834235(T;T)
Significance Pathogenic
Disease Glycogen storage disease not provided
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II not provided
Reversed 0
HGVS NC_000017.10:g.78078910delT
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004248.5, RCV000078181.3,