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rs200856561

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200856561(C;T)
Make rs200856561(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position80107616
GeneGAA
is asnp
is mentioned by
dbSNPrs200856561
dbSNP (classic)rs200856561
ClinGenrs200856561
ebirs200856561
HLIrs200856561
Exacrs200856561
Gnomadrs200856561
Varsomers200856561
LitVarrs200856561
Maprs200856561
PheGenIrs200856561
Biobankrs200856561
1000 genomesrs200856561
hgdprs200856561
ensemblrs200856561
geneviewrs200856561
scholarrs200856561
googlers200856561
pharmgkbrs200856561
gwascentralrs200856561
openSNPrs200856561
23andMers200856561
SNPshotrs200856561
SNPdbers200856561
MSV3drs200856561
GWAS Ctlgrs200856561
Max Magnitude0
ClinVar
Risk rs200856561(T;T)
Alt rs200856561(T;T)
Reference Rs200856561(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.78081415C>T
CLNSRC Illumina
CLNACC RCV000372885.1,