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rs679899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs679899(A;A)
Make rs679899(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position21028042
GeneAPOB
is asnp
is mentioned by
dbSNPrs679899
dbSNP (old)rs679899
ClinGenrs679899
ebirs679899
HLIrs679899
Exacrs679899
Gnomadrs679899
Varsomers679899
Maprs679899
PheGenIrs679899
Biobankrs679899
1000 genomesrs679899
hgdprs679899
ensemblrs679899
gopubmedrs679899
geneviewrs679899
scholarrs679899
googlers679899
pharmgkbrs679899
gwascentralrs679899
openSNPrs679899
23andMers679899
23andMe allrs679899
SNP Nexus

SNPshotrs679899
SNPdbers679899
MSV3drs679899
GWAS Ctlgrs679899
GMAF0.4917
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene APOB
allele A
frequency
sift TOLERATED
HuRef 1103658040725
Disease Association Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.



[PMID 19282863] Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension


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


GET Evidence
APOB-A618V
aa_change Ala618Val
aa_change_short A618V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.366425
summary



ClinVar
Risk rs679899(A;A)
Alt rs679899(A;A)
Reference Rs679899(G;G)
Significance Other
Disease not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia
Reversed 0
HGVS NC_000002.11:g.21250914G>A
CLNSRC Instituto Nacional de Saúde Doutor Ricardo Jorge
CLNACC RCV000116384.4, RCV000256290.2, RCV000295735.1,