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rs780321415

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs780321415(C;T)
Make rs780321415(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80118319
GeneGAA
is asnp
is mentioned by
dbSNPrs780321415
ebirs780321415
HLIrs780321415
Exacrs780321415
Varsomers780321415
Maprs780321415
PheGenIrs780321415
hapmaprs780321415
1000 genomesrs780321415
hgdprs780321415
ensemblrs780321415
gopubmedrs780321415
geneviewrs780321415
scholarrs780321415
googlers780321415
pharmgkbrs780321415
gwascentralrs780321415
openSNPrs780321415
23andMers780321415
23andMe allrs780321415
SNP Nexus

SNPshotrs780321415
SNPdbers780321415
MSV3drs780321415
GWAS Ctlgrs780321415
Max Magnitude0
ClinVar
Risk rs780321415(T;T)
Alt rs780321415(T;T)
Reference rs780321415(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.78092118C>T
CLNSRC
CLNACC RCV000169394.1,