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rs577915581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs577915581(C;T)
Make rs577915581(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position80107625
GeneGAA
is asnp
is mentioned by
dbSNPrs577915581
dbSNP (classic)rs577915581
ClinGenrs577915581
ebirs577915581
HLIrs577915581
Exacrs577915581
Gnomadrs577915581
Varsomers577915581
LitVarrs577915581
Maprs577915581
PheGenIrs577915581
Biobankrs577915581
1000 genomesrs577915581
hgdprs577915581
ensemblrs577915581
geneviewrs577915581
scholarrs577915581
googlers577915581
pharmgkbrs577915581
gwascentralrs577915581
openSNPrs577915581
23andMers577915581
SNPshotrs577915581
SNPdbers577915581
MSV3drs577915581
GWAS Ctlgrs577915581
Max Magnitude0
ClinVar
Risk rs577915581(T;T)
Alt rs577915581(T;T)
Reference Rs577915581(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.78081424C>T
CLNSRC Illumina
CLNACC RCV000285433.1,