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rs1057517183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517183(A;A)
Make rs1057517183(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8813107
GenePMM2
is asnp
is mentioned by
dbSNPrs1057517183
dbSNP (classic)rs1057517183
ClinGenrs1057517183
ebirs1057517183
HLIrs1057517183
Exacrs1057517183
Gnomadrs1057517183
Varsomers1057517183
LitVarrs1057517183
Maprs1057517183
PheGenIrs1057517183
Biobankrs1057517183
1000 genomesrs1057517183
hgdprs1057517183
ensemblrs1057517183
geneviewrs1057517183
scholarrs1057517183
googlers1057517183
pharmgkbrs1057517183
gwascentralrs1057517183
openSNPrs1057517183
23andMers1057517183
23andMe allrs1057517183
SNPshotrs1057517183
SNPdbers1057517183
MSV3drs1057517183
GWAS Ctlgrs1057517183
Max Magnitude0
ClinVar
Risk rs1057517183(A;A)
Alt rs1057517183(A;A)
Reference Rs1057517183(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.8906964G>A
CLNSRC
CLNACC RCV000409903.1,