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rs80338705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338705(A;T)
Make rs80338705(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8847737
GenePMM2
is asnp
is mentioned by
dbSNPrs80338705
ebirs80338705
HLIrs80338705
Exacrs80338705
Varsomers80338705
Maprs80338705
PheGenIrs80338705
hapmaprs80338705
1000 genomesrs80338705
hgdprs80338705
ensemblrs80338705
gopubmedrs80338705
geneviewrs80338705
scholarrs80338705
googlers80338705
pharmgkbrs80338705
gwascentralrs80338705
openSNPrs80338705
23andMers80338705
23andMe allrs80338705
SNP Nexus

SNPshotrs80338705
SNPdbers80338705
MSV3drs80338705
GWAS Ctlgrs80338705
Max Magnitude0
ClinVar
Risk rs80338705(T;T)
Alt rs80338705(T;T)
Reference rs80338705(A;A)
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.8941594A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020236.1,