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rs142752477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142752477(A;A)
Make rs142752477(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position80108537
GeneGAA
is asnp
is mentioned by
dbSNPrs142752477
dbSNP (old)rs142752477
ClinGenrs142752477
ebirs142752477
HLIrs142752477
Exacrs142752477
Gnomadrs142752477
Varsomers142752477
Maprs142752477
PheGenIrs142752477
Biobankrs142752477
1000 genomesrs142752477
hgdprs142752477
ensemblrs142752477
gopubmedrs142752477
geneviewrs142752477
scholarrs142752477
googlers142752477
pharmgkbrs142752477
gwascentralrs142752477
openSNPrs142752477
23andMers142752477
23andMe allrs142752477
SNPshotrs142752477
SNPdbers142752477
MSV3drs142752477
GWAS Ctlgrs142752477
Max Magnitude0
ClinVar
Risk rs142752477(A;A) rs142752477(T;T)
Alt rs142752477(A;A) rs142752477(T;T)
Reference Rs142752477(G;G)
Significance Other
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082336G>T
CLNSRC
CLNACC RCV000306541.1,