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rs5126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs5126(A;C)
Make rs5126(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position44949172
GeneAPOC2, APOC4-APOC2
is asnp
is mentioned by
dbSNPrs5126
ebirs5126
HLIrs5126
Exacrs5126
Varsomers5126
Maprs5126
PheGenIrs5126
hapmaprs5126
1000 genomesrs5126
hgdprs5126
ensemblrs5126
gopubmedrs5126
geneviewrs5126
scholarrs5126
googlers5126
pharmgkbrs5126
gwascentralrs5126
openSNPrs5126
23andMers5126
23andMe allrs5126
SNP Nexus

SNPshotrs5126
SNPdbers5126
MSV3drs5126
GWAS Ctlgrs5126
GMAF0.006428
Max Magnitude0
? (A;A) (A;C) (C;C) 28
OMIM608083
Desc
Variant0001
Relatedalso
ClinVar
Risk rs5126(C;C)
Alt rs5126(C;C)
Reference rs5126(A;A)
Significance Pathogenic
Disease APOLIPOPROTEIN C-II (AFRICAN)
Variation info
Gene APOC2 APOC4-APOC2
CLNDBN APOLIPOPROTEIN C-II (AFRICAN)
Reversed 0
HGVS NC_000019.9:g.45452429A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002682.2,


GET Evidence
APOC2-K77Q
aa_change Lys77Gln
aa_change_short K77Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00743633
summary