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rs111033542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033542(C;T)
Make rs111033542(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position136327239
GenePCCB
is asnp
is mentioned by
dbSNPrs111033542
dbSNP (classic)rs111033542
ClinGenrs111033542
ebirs111033542
HLIrs111033542
Exacrs111033542
Gnomadrs111033542
Varsomers111033542
LitVarrs111033542
Maprs111033542
PheGenIrs111033542
Biobankrs111033542
1000 genomesrs111033542
hgdprs111033542
ensemblrs111033542
geneviewrs111033542
scholarrs111033542
googlers111033542
pharmgkbrs111033542
gwascentralrs111033542
openSNPrs111033542
23andMers111033542
SNPshotrs111033542
SNPdbers111033542
MSV3drs111033542
GWAS Ctlgrs111033542
Merged fromRs28934887
Max Magnitude0
OMIM232050
Desc
Variant0006
Relatedalso
ClinVar
Risk rs111033542(T;T)
Alt rs111033542(T;T)
Reference Rs111033542(C;C)
Significance Pathogenic
Disease Propionic acidemia
Variation info
Gene PCCB
CLNDBN Propionic acidemia
Reversed 0
HGVS NC_000003.11:g.136046081C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012796.16,