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rs1057516376

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516376(-;-)
Make rs1057516376(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8811145
GenePMM2
is asnp
is mentioned by
dbSNPrs1057516376
dbSNP (old)rs1057516376
ClinGenrs1057516376
ebirs1057516376
HLIrs1057516376
Exacrs1057516376
Gnomadrs1057516376
Varsomers1057516376
Maprs1057516376
PheGenIrs1057516376
Biobankrs1057516376
1000 genomesrs1057516376
hgdprs1057516376
ensemblrs1057516376
gopubmedrs1057516376
geneviewrs1057516376
scholarrs1057516376
googlers1057516376
pharmgkbrs1057516376
gwascentralrs1057516376
openSNPrs1057516376
23andMers1057516376
23andMe allrs1057516376
SNPshotrs1057516376
SNPdbers1057516376
MSV3drs1057516376
GWAS Ctlgrs1057516376
Max Magnitude0
ClinVar
Risk rs1057516376(-;-)
Alt rs1057516376(-;-)
Reference Rs1057516376(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.8905002delA
CLNSRC
CLNACC RCV000408989.1,