Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517148

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517148(A;A)
Make rs1057517148(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position80117111
GeneGAA
is asnp
is mentioned by
dbSNPrs1057517148
dbSNP (old)rs1057517148
ClinGenrs1057517148
ebirs1057517148
HLIrs1057517148
Exacrs1057517148
Gnomadrs1057517148
Varsomers1057517148
Maprs1057517148
PheGenIrs1057517148
Biobankrs1057517148
1000 genomesrs1057517148
hgdprs1057517148
ensemblrs1057517148
gopubmedrs1057517148
geneviewrs1057517148
scholarrs1057517148
googlers1057517148
pharmgkbrs1057517148
gwascentralrs1057517148
openSNPrs1057517148
23andMers1057517148
23andMe allrs1057517148
SNPshotrs1057517148
SNPdbers1057517148
MSV3drs1057517148
GWAS Ctlgrs1057517148
Max Magnitude0
ClinVar
Risk rs1057517148(A;A)
Alt rs1057517148(A;A)
Reference Rs1057517148(T;T)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78090910T>A
CLNSRC
CLNACC RCV000411608.1,