Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516520(A;T)
Make rs1057516520(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80108528
GeneGAA
is asnp
is mentioned by
dbSNPrs1057516520
dbSNP (old)rs1057516520
ClinGenrs1057516520
ebirs1057516520
HLIrs1057516520
Exacrs1057516520
Gnomadrs1057516520
Varsomers1057516520
Maprs1057516520
PheGenIrs1057516520
Biobankrs1057516520
1000 genomesrs1057516520
hgdprs1057516520
ensemblrs1057516520
gopubmedrs1057516520
geneviewrs1057516520
scholarrs1057516520
googlers1057516520
pharmgkbrs1057516520
gwascentralrs1057516520
openSNPrs1057516520
23andMers1057516520
23andMe allrs1057516520
SNPshotrs1057516520
SNPdbers1057516520
MSV3drs1057516520
GWAS Ctlgrs1057516520
Max Magnitude0
ClinVar
Risk rs1057516520(T;T)
Alt rs1057516520(T;T)
Reference Rs1057516520(A;A)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78082327A>T
CLNSRC
CLNACC RCV000411518.1,