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rs199562225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199562225(C;T)
Make rs199562225(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8813047
GenePMM2
is asnp
is mentioned by
dbSNPrs199562225
dbSNP (classic)rs199562225
ClinGenrs199562225
ebirs199562225
HLIrs199562225
Exacrs199562225
Gnomadrs199562225
Varsomers199562225
LitVarrs199562225
Maprs199562225
PheGenIrs199562225
Biobankrs199562225
1000 genomesrs199562225
hgdprs199562225
ensemblrs199562225
geneviewrs199562225
scholarrs199562225
googlers199562225
pharmgkbrs199562225
gwascentralrs199562225
openSNPrs199562225
23andMers199562225
23andMe allrs199562225
SNPshotrs199562225
SNPdbers199562225
MSV3drs199562225
GWAS Ctlgrs199562225
Max Magnitude0
ClinVar
Risk rs199562225(T;T)
Alt rs199562225(T;T)
Reference Rs199562225(C;C)
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.8906904C>T
CLNSRC
CLNACC RCV000490462.1,