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

rs80338704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338704(A;G)
Make rs80338704(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8813030
GenePMM2
is asnp
is mentioned by
dbSNPrs80338704
ebirs80338704
HLIrs80338704
Exacrs80338704
Varsomers80338704
Maprs80338704
PheGenIrs80338704
hapmaprs80338704
1000 genomesrs80338704
hgdprs80338704
ensemblrs80338704
gopubmedrs80338704
geneviewrs80338704
scholarrs80338704
googlers80338704
pharmgkbrs80338704
gwascentralrs80338704
openSNPrs80338704
23andMers80338704
23andMe allrs80338704
SNP Nexus

SNPshotrs80338704
SNPdbers80338704
MSV3drs80338704
GWAS Ctlgrs80338704
Max Magnitude0
OMIM601785
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80338704(G;G)
Alt rs80338704(G;G)
Reference rs80338704(A;A)
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.8906887A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008151.4, RCV000153744.2,


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