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rs80338707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338707(A;A)
Make rs80338707(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8847775
GenePMM2
is asnp
is mentioned by
dbSNPrs80338707
ebirs80338707
HLIrs80338707
Exacrs80338707
Varsomers80338707
Maprs80338707
PheGenIrs80338707
hapmaprs80338707
1000 genomesrs80338707
hgdprs80338707
ensemblrs80338707
gopubmedrs80338707
geneviewrs80338707
scholarrs80338707
googlers80338707
pharmgkbrs80338707
gwascentralrs80338707
openSNPrs80338707
23andMers80338707
23andMe allrs80338707
SNP Nexus

SNPshotrs80338707
SNPdbers80338707
MSV3drs80338707
GWAS Ctlgrs80338707
Max Magnitude0
OMIM601785
Desc
Variant0014
Relatedalso
ClinVar
Risk rs80338707(A;A)
Alt rs80338707(A;A)
Reference rs80338707(G;G)
Significance Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type I not provided
Variation info
Gene PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I not provided
Reversed 0
HGVS NC_000016.9:g.8941632G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008158.4, RCV000078597.3,


[PMID 10922383OA-icon.png] Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.