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rs1060499598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499598(A;A)
Make rs1060499598(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8804844
GenePMM2
is asnp
is mentioned by
dbSNPrs1060499598
dbSNP (old)rs1060499598
ClinGenrs1060499598
ebirs1060499598
HLIrs1060499598
Exacrs1060499598
Gnomadrs1060499598
Varsomers1060499598
Maprs1060499598
PheGenIrs1060499598
Biobankrs1060499598
1000 genomesrs1060499598
hgdprs1060499598
ensemblrs1060499598
gopubmedrs1060499598
geneviewrs1060499598
scholarrs1060499598
googlers1060499598
pharmgkbrs1060499598
gwascentralrs1060499598
openSNPrs1060499598
23andMers1060499598
23andMe allrs1060499598
SNPshotrs1060499598
SNPdbers1060499598
MSV3drs1060499598
GWAS Ctlgrs1060499598
Max Magnitude0
ClinVar
Risk rs1060499598(A;A)
Alt rs1060499598(A;A)
Reference Rs1060499598(G;G)
Significance 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.8898701G>A
CLNSRC
CLNACC RCV000477824.1,