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rs398123312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs398123312(GC;GC)
Make rs398123312(GC;TA)
ReferenceGRCh38 38.1/141
Chromosome16
Position8801827
GenePMM2
is asnp
is mentioned by
dbSNPrs398123312
ebirs398123312
HLIrs398123312
Exacrs398123312
Varsomers398123312
Maprs398123312
PheGenIrs398123312
hapmaprs398123312
1000 genomesrs398123312
hgdprs398123312
ensemblrs398123312
gopubmedrs398123312
geneviewrs398123312
scholarrs398123312
googlers398123312
pharmgkbrs398123312
gwascentralrs398123312
openSNPrs398123312
23andMers398123312
23andMe allrs398123312
SNP Nexus

SNPshotrs398123312
SNPdbers398123312
MSV3drs398123312
GWAS Ctlgrs398123312
Max Magnitude0
ClinVar
Risk rs398123312(GC;GC)
Alt rs398123312(GC;GC)
Reference rs398123312(TA;TA)
Significance Other
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.8895684_8895685delTAinsGC
CLNSRC HGMD
CLNACC RCV000078599.3, RCV000169510.2,