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rs120074111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074111(A;A)
Make rs120074111(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position44948822
GeneAPOC2, APOC4-APOC2
is asnp
is mentioned by
dbSNPrs120074111
dbSNP (classic)rs120074111
ClinGenrs120074111
ebirs120074111
HLIrs120074111
Exacrs120074111
Gnomadrs120074111
Varsomers120074111
LitVarrs120074111
Maprs120074111
PheGenIrs120074111
Biobankrs120074111
1000 genomesrs120074111
hgdprs120074111
ensemblrs120074111
geneviewrs120074111
scholarrs120074111
googlers120074111
pharmgkbrs120074111
gwascentralrs120074111
openSNPrs120074111
23andMers120074111
SNPshotrs120074111
SNPdbers120074111
MSV3drs120074111
GWAS Ctlgrs120074111
Max Magnitude0
OMIM608083
Desc
Variant0002
Relatedalso
OMIM608083
Desc
Variant0008
Relatedalso
ClinVar
Risk rs120074111(A;A) rs120074111(G;G) rs120074111(T;T)
Alt rs120074111(A;A) rs120074111(G;G) rs120074111(T;T)
Reference Rs120074111(C;C)
Significance Pathogenic
Disease APOLIPOPROTEIN C-II (PADOVA) Apolipoprotein C2 deficiency APOLIPOPROTEIN C-II (BARI)
Variation info
Gene APOC2 APOC4-APOC2
CLNDBN APOLIPOPROTEIN C-II (PADOVA) Apolipoprotein C2 deficiency APOLIPOPROTEIN C-II (BARI)
Reversed 0
HGVS NC_000019.9:g.45452079C>A; NC_000019.9:g.45452079C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002683.2, RCV000002684.2, RCV000002695.2, RCV000002696.2,