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rs781088002

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs781088002(-;-)
Make rs781088002(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80112650
GeneGAA
is asnp
is mentioned by
dbSNPrs781088002
ebirs781088002
HLIrs781088002
Exacrs781088002
Varsomers781088002
Maprs781088002
PheGenIrs781088002
hapmaprs781088002
1000 genomesrs781088002
hgdprs781088002
ensemblrs781088002
gopubmedrs781088002
geneviewrs781088002
scholarrs781088002
googlers781088002
pharmgkbrs781088002
gwascentralrs781088002
openSNPrs781088002
23andMers781088002
23andMe allrs781088002
SNP Nexus

SNPshotrs781088002
SNPdbers781088002
MSV3drs781088002
GWAS Ctlgrs781088002
Max Magnitude0
ClinVar
Risk rs781088002(;)
Alt rs781088002(;)
Reference rs781088002(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78086449delC
CLNSRC
CLNACC RCV000169308.1,