Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338700(C;T)
Make rs80338700(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8806398
GenePMM2
is asnp
is mentioned by
dbSNPrs80338700
ebirs80338700
HLIrs80338700
Exacrs80338700
Varsomers80338700
Maprs80338700
PheGenIrs80338700
hapmaprs80338700
1000 genomesrs80338700
hgdprs80338700
ensemblrs80338700
gopubmedrs80338700
geneviewrs80338700
scholarrs80338700
googlers80338700
pharmgkbrs80338700
gwascentralrs80338700
openSNPrs80338700
23andMers80338700
23andMe allrs80338700
SNP Nexus

SNPshotrs80338700
SNPdbers80338700
MSV3drs80338700
GWAS Ctlgrs80338700
Max Magnitude0
OMIM601785
Desc
Variant0018
Relatedalso
ClinVar
Risk rs80338700(T;T)
Alt rs80338700(T;T)
Reference rs80338700(C;C)
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.8900255C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008162.4, RCV000078588.3,


[PMID 11916319] Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).