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rs786204614

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204614(C;T)
Make rs786204614(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80104929
GeneGAA
is asnp
is mentioned by
dbSNPrs786204614
ebirs786204614
HLIrs786204614
Exacrs786204614
Varsomers786204614
Maprs786204614
PheGenIrs786204614
hapmaprs786204614
1000 genomesrs786204614
hgdprs786204614
ensemblrs786204614
gopubmedrs786204614
geneviewrs786204614
scholarrs786204614
googlers786204614
pharmgkbrs786204614
gwascentralrs786204614
openSNPrs786204614
23andMers786204614
23andMe allrs786204614
SNP Nexus

SNPshotrs786204614
SNPdbers786204614
MSV3drs786204614
GWAS Ctlgrs786204614
Max Magnitude0
ClinVar
Risk rs786204614(T;T)
Alt rs786204614(T;T)
Reference rs786204614(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.78078728C>T
CLNSRC
CLNACC RCV000169376.1,