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rs120074116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074116(A;A)
Make rs120074116(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position44949198
GeneAPOC2, APOC4-APOC2
is asnp
is mentioned by
dbSNPrs120074116
dbSNP (classic)rs120074116
ClinGenrs120074116
ebirs120074116
HLIrs120074116
Exacrs120074116
Gnomadrs120074116
Varsomers120074116
LitVarrs120074116
Maprs120074116
PheGenIrs120074116
Biobankrs120074116
1000 genomesrs120074116
hgdprs120074116
ensemblrs120074116
geneviewrs120074116
scholarrs120074116
googlers120074116
pharmgkbrs120074116
gwascentralrs120074116
openSNPrs120074116
23andMers120074116
SNPshotrs120074116
SNPdbers120074116
MSV3drs120074116
GWAS Ctlgrs120074116
Max Magnitude0
OMIM608083
Desc
Variant0012
Relatedalso
ClinVar
Risk rs120074116(A;A)
Alt rs120074116(A;A)
Reference Rs120074116(C;C)
Significance Pathogenic
Disease APOLIPOPROTEIN C-II (AUCKLAND) Apolipoprotein C2 deficiency
Variation info
Gene APOC2 APOC4-APOC2
CLNDBN APOLIPOPROTEIN C-II (AUCKLAND) Apolipoprotein C2 deficiency
Reversed 0
HGVS NC_000019.9:g.45452455C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002701.2, RCV000002702.2,