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rs121964957

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121964957(A;T)
Make rs121964957(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position100268731
GenePCCA
is asnp
is mentioned by
dbSNPrs121964957
ebirs121964957
HLIrs121964957
Exacrs121964957
Varsomers121964957
Maprs121964957
PheGenIrs121964957
hapmaprs121964957
1000 genomesrs121964957
hgdprs121964957
ensemblrs121964957
gopubmedrs121964957
geneviewrs121964957
scholarrs121964957
googlers121964957
pharmgkbrs121964957
gwascentralrs121964957
openSNPrs121964957
23andMers121964957
23andMe allrs121964957
SNP Nexus

SNPshotrs121964957
SNPdbers121964957
MSV3drs121964957
GWAS Ctlgrs121964957
Max Magnitude0
OMIM232000
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964957(C,G,T;C,G,T)
Alt rs121964957(C,G,T;C,G,T)
Reference rs121964957(A;A)
Significance Pathogenic
Disease Propionic acidemia
Variation info
Gene PCCA
CLNDBN Propionic acidemia
Reversed 0
HGVS NC_000013.10:g.100920985A>G; NC_000013.10:g.100920985A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032112.1, RCV000012803.24,