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rs374143224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374143224(A;A)
Make rs374143224(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80112966
GeneGAA
is asnp
is mentioned by
dbSNPrs374143224
dbSNP (old)rs374143224
ClinGenrs374143224
ebirs374143224
HLIrs374143224
Exacrs374143224
Gnomadrs374143224
Varsomers374143224
Maprs374143224
PheGenIrs374143224
Biobankrs374143224
1000 genomesrs374143224
hgdprs374143224
ensemblrs374143224
gopubmedrs374143224
geneviewrs374143224
scholarrs374143224
googlers374143224
pharmgkbrs374143224
gwascentralrs374143224
openSNPrs374143224
23andMers374143224
23andMe allrs374143224
SNP Nexus

SNPshotrs374143224
SNPdbers374143224
MSV3drs374143224
GWAS Ctlgrs374143224
Max Magnitude0
ClinVar
Risk rs374143224(A;A)
Alt rs374143224(A;A)
Reference Rs374143224(G;G)
Significance Pathogenic
Disease Glycogen storage disease not provided
Variation info
Gene GAA
CLNDBN Glycogen storage disease, type II not provided
Reversed 0
HGVS NC_000017.10:g.78086765G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169600.1, RCV000256037.2,