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rs80338702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338702(C;C)
Make rs80338702(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8811126
GenePMM2
is asnp
is mentioned by
dbSNPrs80338702
ebirs80338702
HLIrs80338702
Exacrs80338702
Varsomers80338702
Maprs80338702
PheGenIrs80338702
hapmaprs80338702
1000 genomesrs80338702
hgdprs80338702
ensemblrs80338702
gopubmedrs80338702
geneviewrs80338702
scholarrs80338702
googlers80338702
pharmgkbrs80338702
gwascentralrs80338702
openSNPrs80338702
23andMers80338702
23andMe allrs80338702
SNP Nexus

SNPshotrs80338702
SNPdbers80338702
MSV3drs80338702
GWAS Ctlgrs80338702
Max Magnitude0
OMIM601785
Desc
Variant0013
Relatedalso
ClinVar
Risk rs80338702(C;C)
Alt rs80338702(C;C)
Reference rs80338702(T;T)
Significance Other
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.8904983T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008157.5,


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