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rs1057516886

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516886(A;A)
Make rs1057516886(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8813027
GenePMM2
is asnp
is mentioned by
dbSNPrs1057516886
dbSNP (old)rs1057516886
ClinGenrs1057516886
ebirs1057516886
HLIrs1057516886
Exacrs1057516886
Gnomadrs1057516886
Varsomers1057516886
Maprs1057516886
PheGenIrs1057516886
Biobankrs1057516886
1000 genomesrs1057516886
hgdprs1057516886
ensemblrs1057516886
gopubmedrs1057516886
geneviewrs1057516886
scholarrs1057516886
googlers1057516886
pharmgkbrs1057516886
gwascentralrs1057516886
openSNPrs1057516886
23andMers1057516886
23andMe allrs1057516886
SNPshotrs1057516886
SNPdbers1057516886
MSV3drs1057516886
GWAS Ctlgrs1057516886
Max Magnitude0
ClinVar
Risk rs1057516886(A;A)
Alt rs1057516886(A;A)
Reference Rs1057516886(G;G)
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.8906884G>A
CLNSRC
CLNACC RCV000410575.1,