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rs200503569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200503569(C;T)
Make rs200503569(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position8806383
GenePMM2
is asnp
is mentioned by
dbSNPrs200503569
ebirs200503569
HLIrs200503569
Exacrs200503569
Varsomers200503569
Maprs200503569
PheGenIrs200503569
hapmaprs200503569
1000 genomesrs200503569
hgdprs200503569
ensemblrs200503569
gopubmedrs200503569
geneviewrs200503569
scholarrs200503569
googlers200503569
pharmgkbrs200503569
gwascentralrs200503569
openSNPrs200503569
23andMers200503569
23andMe allrs200503569
SNP Nexus

SNPshotrs200503569
SNPdbers200503569
MSV3drs200503569
GWAS Ctlgrs200503569
Max Magnitude0
ClinVar
Risk rs200503569(T;T)
Alt rs200503569(T;T)
Reference rs200503569(C;C)
Significance Probable-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.8900240C>T
CLNSRC HGMD
CLNACC RCV000078587.3, RCV000178072.1,