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rs80338708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338708(C;T)
Make rs80338708(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8847794
GenePMM2
is asnp
is mentioned by
dbSNPrs80338708
ebirs80338708
HLIrs80338708
Exacrs80338708
Varsomers80338708
Maprs80338708
PheGenIrs80338708
hapmaprs80338708
1000 genomesrs80338708
hgdprs80338708
ensemblrs80338708
gopubmedrs80338708
geneviewrs80338708
scholarrs80338708
googlers80338708
pharmgkbrs80338708
gwascentralrs80338708
openSNPrs80338708
23andMers80338708
23andMe allrs80338708
SNP Nexus

SNPshotrs80338708
SNPdbers80338708
MSV3drs80338708
GWAS Ctlgrs80338708
GMAF0.0004591
Max Magnitude0
OMIM601785
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80338708(G,T;G,T)
Alt rs80338708(G,T;G,T)
Reference rs80338708(C;C)
Significance Other
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.8941651C>G; NC_000016.9:g.8941651C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008155.4, RCV000078598.3, RCV000020237.4,