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rs1042395

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1042395(A;A)
Make rs1042395(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80105870
GeneGAA
is asnp
is mentioned by
dbSNPrs1042395
ebirs1042395
HLIrs1042395
Exacrs1042395
Varsomers1042395
Maprs1042395
PheGenIrs1042395
hapmaprs1042395
1000 genomesrs1042395
hgdprs1042395
ensemblrs1042395
gopubmedrs1042395
geneviewrs1042395
scholarrs1042395
googlers1042395
pharmgkbrs1042395
gwascentralrs1042395
openSNPrs1042395
23andMers1042395
23andMe allrs1042395
SNP Nexus

SNPshotrs1042395
SNPdbers1042395
MSV3drs1042395
GWAS Ctlgrs1042395
Merged fromRs11150843
GMAF0.3866
Max Magnitude0
? (A;A) (A;G) (G;G) 28
GET Evidence
GAA-R223H
aa_change Arg223His
aa_change_short R223H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.672834
summary


ClinVar
Risk rs1042395(A;A)
Alt rs1042395(A;A)
Reference rs1042395(G;G)
Significance Probable-non-pathogenic
Disease not specified Glycogen storage disease
Variation info
Gene GAA
CLNDBN not specified Glycogen storage disease, type II
Reversed 0
HGVS NC_000017.10:g.78079669G>A
CLNSRC ClinVar Emory University
CLNACC RCV000078185.5, RCV000169616.1,