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rs1057517117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517117(A;A)
Make rs1057517117(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8806408
GenePMM2
is asnp
is mentioned by
dbSNPrs1057517117
dbSNP (old)rs1057517117
ClinGenrs1057517117
ebirs1057517117
HLIrs1057517117
Exacrs1057517117
Gnomadrs1057517117
Varsomers1057517117
Maprs1057517117
PheGenIrs1057517117
Biobankrs1057517117
1000 genomesrs1057517117
hgdprs1057517117
ensemblrs1057517117
gopubmedrs1057517117
geneviewrs1057517117
scholarrs1057517117
googlers1057517117
pharmgkbrs1057517117
gwascentralrs1057517117
openSNPrs1057517117
23andMers1057517117
23andMe allrs1057517117
SNPshotrs1057517117
SNPdbers1057517117
MSV3drs1057517117
GWAS Ctlgrs1057517117
Max Magnitude0
ClinVar
Risk rs1057517117(A;A)
Alt rs1057517117(A;A)
Reference Rs1057517117(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.8900265G>A
CLNSRC
CLNACC RCV000409924.1,