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rs5122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs5122(A;A)
Make rs5122(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position44948823
GeneAPOC2, APOC4-APOC2
is asnp
is mentioned by
dbSNPrs5122
ebirs5122
HLIrs5122
Exacrs5122
Varsomers5122
Maprs5122
PheGenIrs5122
hapmaprs5122
1000 genomesrs5122
hgdprs5122
ensemblrs5122
gopubmedrs5122
geneviewrs5122
scholarrs5122
googlers5122
pharmgkbrs5122
gwascentralrs5122
openSNPrs5122
23andMers5122
23andMe allrs5122
SNP Nexus

SNPshotrs5122
SNPdbers5122
MSV3drs5122
GWAS Ctlgrs5122
GMAF0.001837
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM608083
Desc
Variant0010
Relatedalso


ClinVar
Risk rs5122(A;A)
Alt rs5122(A;A)
Reference rs5122(G;G)
Significance Pathogenic
Disease APOLIPOPROTEIN C-II (SAN FRANCISCO)
Variation info
Gene APOC2 APOC4-APOC2
CLNDBN APOLIPOPROTEIN C-II (SAN FRANCISCO)
Reversed 0
HGVS NC_000019.9:g.45452080G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002698.2,



GET Evidence
APOC2-E60K
aa_change Glu60Lys
aa_change_short E60K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00297453
summary