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rs80338703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338703(A;A)
Make rs80338703(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8811146
GenePMM2
is asnp
is mentioned by
dbSNPrs80338703
ebirs80338703
HLIrs80338703
Exacrs80338703
Varsomers80338703
Maprs80338703
PheGenIrs80338703
hapmaprs80338703
1000 genomesrs80338703
hgdprs80338703
ensemblrs80338703
gopubmedrs80338703
geneviewrs80338703
scholarrs80338703
googlers80338703
pharmgkbrs80338703
gwascentralrs80338703
openSNPrs80338703
23andMers80338703
23andMe allrs80338703
SNP Nexus

SNPshotrs80338703
SNPdbers80338703
MSV3drs80338703
GWAS Ctlgrs80338703
Max Magnitude0
ClinVar
Risk rs80338703(A;A)
Alt rs80338703(A;A)
Reference rs80338703(G;G)
Significance Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type I
Variation info
Gene PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I
Reversed 0
HGVS NC_000016.9:g.8905003G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020235.2,