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rs1057516815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516815(-;-)
Make rs1057516815(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8804777
GenePMM2
is asnp
is mentioned by
dbSNPrs1057516815
dbSNP (old)rs1057516815
ClinGenrs1057516815
ebirs1057516815
HLIrs1057516815
Exacrs1057516815
Gnomadrs1057516815
Varsomers1057516815
LitVarrs1057516815
Maprs1057516815
PheGenIrs1057516815
Biobankrs1057516815
1000 genomesrs1057516815
hgdprs1057516815
ensemblrs1057516815
gopubmedrs1057516815
geneviewrs1057516815
scholarrs1057516815
googlers1057516815
pharmgkbrs1057516815
gwascentralrs1057516815
openSNPrs1057516815
23andMers1057516815
23andMe allrs1057516815
SNPshotrs1057516815
SNPdbers1057516815
MSV3drs1057516815
GWAS Ctlgrs1057516815
Max Magnitude0
ClinVar
Risk rs1057516815(-;-)
Alt rs1057516815(-;-)
Reference Rs1057516815(A;A)
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.8898634delA
CLNSRC
CLNACC RCV000409395.1,