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rs532870929

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs532870929(C;C)
Make rs532870929(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position8813087
GenePMM2
is asnp
is mentioned by
dbSNPrs532870929
ebirs532870929
HLIrs532870929
Exacrs532870929
Varsomers532870929
Maprs532870929
PheGenIrs532870929
hapmaprs532870929
1000 genomesrs532870929
hgdprs532870929
ensemblrs532870929
gopubmedrs532870929
geneviewrs532870929
scholarrs532870929
googlers532870929
pharmgkbrs532870929
gwascentralrs532870929
openSNPrs532870929
23andMers532870929
23andMe allrs532870929
SNP Nexus

SNPshotrs532870929
SNPdbers532870929
MSV3drs532870929
GWAS Ctlgrs532870929
Max Magnitude0
ClinVar
Risk rs532870929(C;C)
Alt rs532870929(C;C)
Reference rs532870929(T;T)
Significance Probable-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.8906944T>C
CLNSRC
CLNACC RCV000169562.1,