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rs1042034

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(T;T) 0
Make rs1042034(A;A)
Make rs1042034(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position21002409
GeneAPOB
is asnp
is mentioned by
dbSNPrs1042034
ebirs1042034
HLIrs1042034
Exacrs1042034
Varsomers1042034
Maprs1042034
PheGenIrs1042034
hapmaprs1042034
1000 genomesrs1042034
hgdprs1042034
ensemblrs1042034
gopubmedrs1042034
geneviewrs1042034
scholarrs1042034
googlers1042034
pharmgkbrs1042034
gwascentralrs1042034
openSNPrs1042034
23andMers1042034
23andMe allrs1042034
SNP Nexus

SNPshotrs1042034
SNPdbers1042034
MSV3drs1042034
GWAS Ctlgrs1042034
GMAF0.3384
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene APOB
allele T
frequency 0.808
sift TOLERATED
HuRef 1103658040693
Disease Association Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.



Neighborrs1042031
Distance472
GWAS snp
PMID [PMID 20686565OA-icon.png]
Trait
Title Biological, clinical and population relevance of 95 loci for blood lipids.
Risk Allele C
P-val 1E-30
Odds Ratio 0.9000 None


[PMID 19503741OA-icon.png] Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.


[PMID 19753309OA-icon.png] SOD2 gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.


GET Evidence
APOB-S4338N
aa_change Ser4338Asn
aa_change_short S4338N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.801918
summary



[PMID 23482652OA-icon.png] Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol


[PMID 23320904OA-icon.png] The role of lipid-related genes, aging-related processes, and environment in healthspan.


ClinVar
Risk rs1042034(A;A)
Alt rs1042034(A;A)
Reference rs1042034(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene APOB
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.21225281C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116382.2,