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rs1042034

From SNPedia
Orientationminus
Stabilizedminus
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
dbSNP (old)rs1042034
ClinGenrs1042034
ebirs1042034
HLIrs1042034
Exacrs1042034
Gnomadrs1042034
Varsomers1042034
Maprs1042034
PheGenIrs1042034
Biobankrs1042034
1000 genomesrs1042034
hgdprs1042034
ensemblrs1042034
gopubmedrs1042034
geneviewrs1042034
scholarrs1042034
googlers1042034
pharmgkbrs1042034
gwascentralrs1042034
openSNPrs1042034
23andMers1042034
23andMe allrs1042034
SNPshotrs1042034
SNPdbers1042034
MSV3drs1042034
GWAS Ctlgrs1042034
GMAF0.3384
Max Magnitude0
? (A;A) (A;G) (G;G) 28


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.



[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 Other
Disease not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21225281C>T
CLNSRC Instituto Nacional de Saúde Doutor Ricardo Jorge
CLNACC RCV000116382.4, RCV000256262.2, RCV000284555.1,