Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894525(A;A)
Make rs104894525(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8811116
GenePMM2
is asnp
is mentioned by
dbSNPrs104894525
dbSNP (classic)rs104894525
ClinGenrs104894525
ebirs104894525
HLIrs104894525
Exacrs104894525
Gnomadrs104894525
Varsomers104894525
LitVarrs104894525
Maprs104894525
PheGenIrs104894525
Biobankrs104894525
1000 genomesrs104894525
hgdprs104894525
ensemblrs104894525
geneviewrs104894525
scholarrs104894525
googlers104894525
pharmgkbrs104894525
gwascentralrs104894525
openSNPrs104894525
23andMers104894525
SNPshotrs104894525
SNPdbers104894525
MSV3drs104894525
GWAS Ctlgrs104894525
Max Magnitude0
OMIM601785
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894525(A;A)
Alt rs104894525(A;A)
Reference Rs104894525(G;G)
Significance Other
Disease Carbohydrate-deficient glycoprotein syndrome type I not provided
Variation info
Gene PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I not provided
Reversed 0
HGVS NC_000016.9:g.8904973G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008147.6, RCV000344673.1,