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rs80338706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338706(C;G)
Make rs80338706(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8847761
GenePMM2
is asnp
is mentioned by
dbSNPrs80338706
dbSNP (old)rs80338706
ClinGenrs80338706
ebirs80338706
HLIrs80338706
Exacrs80338706
Gnomadrs80338706
Varsomers80338706
Maprs80338706
PheGenIrs80338706
Biobankrs80338706
1000 genomesrs80338706
hgdprs80338706
ensemblrs80338706
gopubmedrs80338706
geneviewrs80338706
scholarrs80338706
googlers80338706
pharmgkbrs80338706
gwascentralrs80338706
openSNPrs80338706
23andMers80338706
23andMe allrs80338706
SNP Nexus

SNPshotrs80338706
SNPdbers80338706
MSV3drs80338706
GWAS Ctlgrs80338706
Max Magnitude0
OMIM601785
Desc
Variant0017
Relatedalso
ClinVar
Risk rs80338706(G;G)
Alt rs80338706(G;G)
Reference Rs80338706(C;C)
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.8941618C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008161.3,


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