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rs190521996

From SNPedia

Orientationplus
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
ebirs190521996
HLIrs190521996
Exacrs190521996
Varsomers190521996
Maprs190521996
PheGenIrs190521996
hapmaprs190521996
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 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.8905517T>C
CLNSRC
CLNACC RCV000169083.1,