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rs387906824

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906824(A;T)
Make rs387906824(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8806377
GenePMM2
is asnp
is mentioned by
dbSNPrs387906824
ebirs387906824
HLIrs387906824
Exacrs387906824
Varsomers387906824
Maprs387906824
PheGenIrs387906824
hapmaprs387906824
1000 genomesrs387906824
hgdprs387906824
ensemblrs387906824
gopubmedrs387906824
geneviewrs387906824
scholarrs387906824
googlers387906824
pharmgkbrs387906824
gwascentralrs387906824
openSNPrs387906824
23andMers387906824
23andMe allrs387906824
SNP Nexus

SNPshotrs387906824
SNPdbers387906824
MSV3drs387906824
GWAS Ctlgrs387906824
Max Magnitude0
ClinVar
Risk rs387906824(T;T)
Alt rs387906824(T;T)
Reference rs387906824(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.8900234A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023149.3,