Have questions? Visit https://www.reddit.com/r/SNPedia

rs368438393

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs368438393(A;A)
Make rs368438393(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80112920
GeneGAA
is asnp
is mentioned by
dbSNPrs368438393
ebirs368438393
HLIrs368438393
Exacrs368438393
Varsomers368438393
Maprs368438393
PheGenIrs368438393
hapmaprs368438393
1000 genomesrs368438393
hgdprs368438393
ensemblrs368438393
gopubmedrs368438393
geneviewrs368438393
scholarrs368438393
googlers368438393
pharmgkbrs368438393
gwascentralrs368438393
openSNPrs368438393
23andMers368438393
23andMe allrs368438393
SNP Nexus

SNPshotrs368438393
SNPdbers368438393
MSV3drs368438393
GWAS Ctlgrs368438393
Max Magnitude0
ClinVar
Risk rs368438393(A,C;A,C)
Alt rs368438393(A,C;A,C)
Reference rs368438393(G;G)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78086719G>A; NC_000017.10:g.78086719G>C
CLNSRC
CLNACC RCV000169030.1, RCV000169400.1,