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rs202247815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs202247815(C;C)
Make rs202247815(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position100209354
GenePCCA
is asnp
is mentioned by
dbSNPrs202247815
ebirs202247815
HLIrs202247815
Exacrs202247815
Varsomers202247815
Maprs202247815
PheGenIrs202247815
hapmaprs202247815
1000 genomesrs202247815
hgdprs202247815
ensemblrs202247815
gopubmedrs202247815
geneviewrs202247815
scholarrs202247815
googlers202247815
pharmgkbrs202247815
gwascentralrs202247815
openSNPrs202247815
23andMers202247815
23andMe allrs202247815
SNP Nexus

SNPshotrs202247815
SNPdbers202247815
MSV3drs202247815
GWAS Ctlgrs202247815
Max Magnitude0
ClinVar
Risk rs202247815(C;C)
Alt rs202247815(C;C)
Reference rs202247815(T;T)
Significance Pathogenic
Disease Propionic acidemia
Variation info
Gene PCCA
CLNDBN Propionic acidemia
Reversed 0
HGVS NC_000013.10:g.100861608T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032111.1,