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rs190521996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs190521996(C;C)
Make rs190521996(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position8811660
GenePMM2
is asnp
is mentioned by
dbSNPrs190521996
dbSNP (old)rs190521996
ClinGenrs190521996
ebirs190521996
HLIrs190521996
Exacrs190521996
Gnomadrs190521996
Varsomers190521996
Maprs190521996
PheGenIrs190521996
Biobankrs190521996
1000 genomesrs190521996
hgdprs190521996
ensemblrs190521996
gopubmedrs190521996
geneviewrs190521996
scholarrs190521996
googlers190521996
pharmgkbrs190521996
gwascentralrs190521996
openSNPrs190521996
23andMers190521996
23andMe allrs190521996
SNP Nexus

SNPshotrs190521996
SNPdbers190521996
MSV3drs190521996
GWAS Ctlgrs190521996
Max Magnitude0
ClinVar
Risk rs190521996(C;C)
Alt rs190521996(C;C)
Reference Rs190521996(T;T)
Significance Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type I Congenital disorder of glycosylation not provided
Variation info
Gene PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I Congenital disorder of glycosylation not provided
Reversed 0
HGVS NC_000016.9:g.8905517T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000169083.1, RCV000332761.1, RCV000481553.1,