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rs1057516323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516323(-;A)
Make rs1057516323(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8811701
GenePMM2
is asnp
is mentioned by
dbSNPrs1057516323
dbSNP (old)rs1057516323
ClinGenrs1057516323
ebirs1057516323
HLIrs1057516323
Exacrs1057516323
Gnomadrs1057516323
Varsomers1057516323
Maprs1057516323
PheGenIrs1057516323
Biobankrs1057516323
1000 genomesrs1057516323
hgdprs1057516323
ensemblrs1057516323
gopubmedrs1057516323
geneviewrs1057516323
scholarrs1057516323
googlers1057516323
pharmgkbrs1057516323
gwascentralrs1057516323
openSNPrs1057516323
23andMers1057516323
23andMe allrs1057516323
SNPshotrs1057516323
SNPdbers1057516323
MSV3drs1057516323
GWAS Ctlgrs1057516323
Max Magnitude0
ClinVar
Risk rs1057516323(A;A)
Alt rs1057516323(A;A)
Reference Rs1057516323(-;-)
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.8905558dupA
CLNSRC
CLNACC RCV000411679.1,