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

rs80338701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338701(A;A)
Make rs80338701(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position8811088
GenePMM2
is asnp
is mentioned by
dbSNPrs80338701
ebirs80338701
HLIrs80338701
Exacrs80338701
Varsomers80338701
Maprs80338701
PheGenIrs80338701
hapmaprs80338701
1000 genomesrs80338701
hgdprs80338701
ensemblrs80338701
gopubmedrs80338701
geneviewrs80338701
scholarrs80338701
googlers80338701
pharmgkbrs80338701
gwascentralrs80338701
openSNPrs80338701
23andMers80338701
23andMe allrs80338701
SNP Nexus

SNPshotrs80338701
SNPdbers80338701
MSV3drs80338701
GWAS Ctlgrs80338701
Max Magnitude0
OMIM601785
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80338701(A;A)
Alt rs80338701(A;A)
Reference rs80338701(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.8904945C>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008150.5, RCV000078589.3,


[PMID 9497260OA-icon.png] Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.


[PMID 9781039] Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.