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rs1057516757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516757(-;G)
Make rs1057516757(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8806405
GenePMM2
is asnp
is mentioned by
dbSNPrs1057516757
dbSNP (old)rs1057516757
ClinGenrs1057516757
ebirs1057516757
HLIrs1057516757
Exacrs1057516757
Gnomadrs1057516757
Varsomers1057516757
Maprs1057516757
PheGenIrs1057516757
Biobankrs1057516757
1000 genomesrs1057516757
hgdprs1057516757
ensemblrs1057516757
gopubmedrs1057516757
geneviewrs1057516757
scholarrs1057516757
googlers1057516757
pharmgkbrs1057516757
gwascentralrs1057516757
openSNPrs1057516757
23andMers1057516757
23andMe allrs1057516757
SNPshotrs1057516757
SNPdbers1057516757
MSV3drs1057516757
GWAS Ctlgrs1057516757
Max Magnitude0
ClinVar
Risk rs1057516757(G;G)
Alt rs1057516757(G;G)
Reference Rs1057516757(-;-)
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.8900262dupG
CLNSRC
CLNACC RCV000408959.1,