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rs1057517110

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517110(C;C)
Make rs1057517110(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8811086
GenePMM2
is asnp
is mentioned by
dbSNPrs1057517110
dbSNP (old)rs1057517110
ClinGenrs1057517110
ebirs1057517110
HLIrs1057517110
Exacrs1057517110
Gnomadrs1057517110
Varsomers1057517110
Maprs1057517110
PheGenIrs1057517110
Biobankrs1057517110
1000 genomesrs1057517110
hgdprs1057517110
ensemblrs1057517110
gopubmedrs1057517110
geneviewrs1057517110
scholarrs1057517110
googlers1057517110
pharmgkbrs1057517110
gwascentralrs1057517110
openSNPrs1057517110
23andMers1057517110
23andMe allrs1057517110
SNPshotrs1057517110
SNPdbers1057517110
MSV3drs1057517110
GWAS Ctlgrs1057517110
Max Magnitude0
ClinVar
Risk rs1057517110(C;C)
Alt rs1057517110(C;C)
Reference Rs1057517110(T;T)
Significance 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.8904943T>C
CLNSRC
CLNACC RCV000409396.1,