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rs201185475

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201185475(C;T)
Make rs201185475(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80104758
GeneGAA
is asnp
is mentioned by
dbSNPrs201185475
ebirs201185475
HLIrs201185475
Exacrs201185475
Varsomers201185475
Maprs201185475
PheGenIrs201185475
hapmaprs201185475
1000 genomesrs201185475
hgdprs201185475
ensemblrs201185475
gopubmedrs201185475
geneviewrs201185475
scholarrs201185475
googlers201185475
pharmgkbrs201185475
gwascentralrs201185475
openSNPrs201185475
23andMers201185475
23andMe allrs201185475
SNP Nexus

SNPshotrs201185475
SNPdbers201185475
MSV3drs201185475
GWAS Ctlgrs201185475
Max Magnitude0
ClinVar
Risk rs201185475(T;T)
Alt rs201185475(T;T)
Reference rs201185475(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.78078557C>T
CLNSRC
CLNACC RCV000169263.1,