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rs120074115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074115(C;C)
Make rs120074115(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position44948787
GeneAPOC2, APOC4-APOC2
is asnp
is mentioned by
dbSNPrs120074115
dbSNP (classic)rs120074115
ClinGenrs120074115
ebirs120074115
HLIrs120074115
Exacrs120074115
Gnomadrs120074115
Varsomers120074115
LitVarrs120074115
Maprs120074115
PheGenIrs120074115
Biobankrs120074115
1000 genomesrs120074115
hgdprs120074115
ensemblrs120074115
geneviewrs120074115
scholarrs120074115
googlers120074115
pharmgkbrs120074115
gwascentralrs120074115
openSNPrs120074115
23andMers120074115
SNPshotrs120074115
SNPdbers120074115
MSV3drs120074115
GWAS Ctlgrs120074115
Max Magnitude0
OMIM608083
Desc
Variant0011
Relatedalso
ClinVar
Risk rs120074115(C;C)
Alt rs120074115(C;C)
Reference Rs120074115(T;T)
Significance Pathogenic
Disease APOLIPOPROTEIN C-II (WAKAYAMA) Apolipoprotein C2 deficiency
Variation info
Gene APOC2 APOC4-APOC2
CLNDBN APOLIPOPROTEIN C-II (WAKAYAMA) Apolipoprotein C2 deficiency
Reversed 0
HGVS NC_000019.9:g.45452044T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002699.2, RCV000002700.2,