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rs191295403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs191295403(C;T)
Make rs191295403(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8811098
GenePMM2
is asnp
is mentioned by
dbSNPrs191295403
dbSNP (classic)rs191295403
ClinGenrs191295403
ebirs191295403
HLIrs191295403
Exacrs191295403
Gnomadrs191295403
Varsomers191295403
LitVarrs191295403
Maprs191295403
PheGenIrs191295403
Biobankrs191295403
1000 genomesrs191295403
hgdprs191295403
ensemblrs191295403
geneviewrs191295403
scholarrs191295403
googlers191295403
pharmgkbrs191295403
gwascentralrs191295403
openSNPrs191295403
23andMers191295403
SNPshotrs191295403
SNPdbers191295403
MSV3drs191295403
GWAS Ctlgrs191295403
Max Magnitude0
ClinVar
Risk rs191295403(T;T)
Alt rs191295403(T;T)
Reference Rs191295403(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene PMM2
CLNDBN not provided
Reversed 0
HGVS NC_000016.9:g.8904955C>T
CLNSRC
CLNACC RCV000492943.1,