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rs121964958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964958(A;A)
Make rs121964958(A;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position100301512
GenePCCA
is asnp
is mentioned by
dbSNPrs121964958
dbSNP (classic)rs121964958
ClinGenrs121964958
ebirs121964958
HLIrs121964958
Exacrs121964958
Gnomadrs121964958
Varsomers121964958
LitVarrs121964958
Maprs121964958
PheGenIrs121964958
Biobankrs121964958
1000 genomesrs121964958
hgdprs121964958
ensemblrs121964958
geneviewrs121964958
scholarrs121964958
googlers121964958
pharmgkbrs121964958
gwascentralrs121964958
openSNPrs121964958
23andMers121964958
SNPshotrs121964958
SNPdbers121964958
MSV3drs121964958
GWAS Ctlgrs121964958
Max Magnitude0
OMIM232000
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964958(A;A)
Alt rs121964958(A;A)
Reference Rs121964958(T;T)
Significance Pathogenic
Disease Propionic acidemia
Variation info
Gene PCCA
CLNDBN Propionic acidemia
Reversed 0
HGVS NC_000013.10:g.100953766T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012804.24,