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rs202247816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202247816(C;G)
Make rs202247816(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position100368513
GenePCCA
is asnp
is mentioned by
dbSNPrs202247816
dbSNP (classic)rs202247816
ClinGenrs202247816
ebirs202247816
HLIrs202247816
Exacrs202247816
Gnomadrs202247816
Varsomers202247816
LitVarrs202247816
Maprs202247816
PheGenIrs202247816
Biobankrs202247816
1000 genomesrs202247816
hgdprs202247816
ensemblrs202247816
geneviewrs202247816
scholarrs202247816
googlers202247816
pharmgkbrs202247816
gwascentralrs202247816
openSNPrs202247816
23andMers202247816
SNPshotrs202247816
SNPdbers202247816
MSV3drs202247816
GWAS Ctlgrs202247816
Max Magnitude0
ClinVar
Risk rs202247816(G;G)
Alt rs202247816(G;G)
Reference Rs202247816(C;C)
Significance Pathogenic
Disease Propionic acidemia
Variation info
Gene PCCA
CLNDBN Propionic acidemia
Reversed 0
HGVS NC_000013.10:g.101020767C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032109.1,