Have questions? Visit https://www.reddit.com/r/SNPedia

rs1042031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A)
(C;C) 0
(G;G) 0 common in clinvar
Make rs1042031(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position21002881
GeneAPOB
is asnp
is mentioned by
dbSNPrs1042031
ebirs1042031
HLIrs1042031
Exacrs1042031
Varsomers1042031
Maprs1042031
PheGenIrs1042031
hapmaprs1042031
1000 genomesrs1042031
hgdprs1042031
ensemblrs1042031
gopubmedrs1042031
geneviewrs1042031
scholarrs1042031
googlers1042031
pharmgkbrs1042031
gwascentralrs1042031
openSNPrs1042031
23andMers1042031
23andMe allrs1042031
SNP Nexus

SNPshotrs1042031
SNPdbers1042031
MSV3drs1042031
GWAS Ctlgrs1042031
GMAF0.1529
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene APOB
allele T
frequency 0.208
sift TOLERATED
HuRef 1103658040694
Disease Association Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.



Neighborrs1042034
Distance472
[PMID 20724655OA-icon.png] ApoB genetic variants modify the response to fenofibrate: a GOLDN study


[PMID 21855833] Replication of Genetic Association Studies in Aortic Stenosis in Adults


[PMID 16642433OA-icon.png] Polymorphism in maternal LRP8 gene is associated with fetal growth.


[PMID 18078817OA-icon.png] Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 20018037OA-icon.png] Mendelian randomization in family data.


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


GET Evidence
APOB-E4181K
aa_change Glu4181Lys
aa_change_short E4181K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.166667
summary



[PMID 23444115] Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene with risk of breast cancer in Chinese.


[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification


ClinVar
Risk rs1042031(A,T;A,T)
Alt rs1042031(A,T;A,T)
Reference rs1042031(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene APOB
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.21225753C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116381.2,