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rs78290141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs78290141(A;T)
Make rs78290141(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8847731
GenePMM2
is asnp
is mentioned by
dbSNPrs78290141
ebirs78290141
HLIrs78290141
Exacrs78290141
Varsomers78290141
Maprs78290141
PheGenIrs78290141
hapmaprs78290141
1000 genomesrs78290141
hgdprs78290141
ensemblrs78290141
gopubmedrs78290141
geneviewrs78290141
scholarrs78290141
googlers78290141
pharmgkbrs78290141
gwascentralrs78290141
openSNPrs78290141
23andMers78290141
23andMe allrs78290141
SNP Nexus

SNPshotrs78290141
SNPdbers78290141
MSV3drs78290141
GWAS Ctlgrs78290141
GMAF0.0004591
Max Magnitude0
OMIM601785
Desc
Variant0002
Relatedalso
ClinVar
Risk rs78290141(G,T;G,T)
Alt rs78290141(G,T;G,T)
Reference rs78290141(A;A)
Significance Pathogenic
Disease not provided Carbohydrate-deficient glycoprotein syndrome type I
Variation info
Gene PMM2
CLNDBN not provided Carbohydrate-deficient glycoprotein syndrome type I
Reversed 0
HGVS NC_000016.9:g.8941588A>G; NC_000016.9:g.8941588A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000180131.1, RCV000008146.4,