rs12721043 Rat Genome Database

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Variant: rs12721043 -  Homo sapiens

RGD ID: 152033698
RS ID: rs12721043
ClinVar ID: CV1610425
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 116,692,293
GRCh38 11 116,821,577
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000482.4:c.481G>T
NG_012044.1:g.6719G>T
NC_000011.10:g.116821577C>A
NC_000011.9:g.116692293C>A
More... 		12/15/2021 missense variant benign none provided
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90246543 Apolipoprotein A-IV levels 10,708 European ancestry individuals A 0.01 2E-26 25.69897000433602 Affymetrix, Illumina [10200000] (imputed) 0.721 apolipoprotein A-IV measurement (EFO:0007848)
 PMID:34648354
GCST90249190 Potassium voltage-gated channel subfamily A member 10 levels 10,708 European ancestry individuals A 0.01 2E-12 11.698970004336019 Affymetrix, Illumina [10200000] (imputed) 0.47 potassium voltage-gated channel subfamily A member 10 measurement (EFO:0802888)
 PMID:34648354
GCST90270118 Multi-trait sex score 141,980 European ancestry males ? NR 1E-32 32.0 Affymetrix [8644321] (imputed) N/A sexual dimorphism measurement (EFO:0021796)
 PMID:37277458
GCST90295949 Triglyceride to HDL cholesterol ratio 402,398 European ancestry individuals C 0.9888 5E-62 61.30102999566398 NR [11253896] (imputed) 0.2479 triglyceride:HDL cholesterol ratio (EFO:0007929)
 PMID:38200128
GCST90295950 Triglyceride to HDL cholesterol ratio 185,749 European ancestry individuals C 0.9888 2E-56 55.69897000433602 NR [11249315] (imputed) 0.2843 triglyceride:HDL cholesterol ratio (EFO:0007929)
 PMID:38200128
GCST90295951 Triglyceride to HDL cholesterol ratio 216,649 European ancestry individuals C 0.9888 1E-32 32.0 NR [11257953] (imputed) 0.2052 triglyceride:HDL cholesterol ratio (EFO:0007929)
 PMID:38200128
GCST90092867 Triglycerides to total lipids ratio in large LDL 115,082 European ancestry individuals C 0.989242 3E-11 10.522878745280337 NR [11722792] (imputed) 0.129668 triglycerides:total lipids ratio (EFO:0020947)
low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:35213538
GCST90092857 Cholesterol to total lipids ratio in large LDL 115,082 European ancestry individuals C 0.989242 2E-16 15.698970004336019 NR [11722792] (imputed) 0.160137 cholesterol:total lipids ratio (EFO:0020943)
low density lipoprotein cholesterol measurement (EFO:0004611)
 PMID:35213538
GCST90019495 Apolipoprotein A1 levels 311,601 European ancestry individuals, 5,550 African ancestry individuals, 6,682 South Asian ancestry individuals A NR 2E-74 73.69897000433602 Affymetrix [9000000] (imputed) 0.2199 apolipoprotein A 1 measurement (EFO:0004614)
 PMID:33462484
GCST90019510 High density lipoprotein cholesterol levels 313,372 European ancestry individuals, 5,573 African ancestry individuals, 6,689 South Asian ancestry individuals A NR 9E-81 80.04575749056067 Affymetrix [9000000] (imputed) 0.2281 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:33462484
GCST90019523 Triglyceride levels 342,233 European ancestry individuals, 6,014 African ancestry individuals, 7,330 South Asian ancestry individuals A NR 8E-83 82.09691001300806 Affymetrix [9000000] (imputed) 0.2209 triglyceride measurement (EFO:0004530)
 PMID:33462484
GCST90093032 Free cholesterol levels in very small VLDL 115,082 European ancestry individuals C 0.989242 4E-8 7.3979400086720375 NR [11722792] (imputed) 0.107821 free cholesterol measurement (EFO:0008591)
very low density lipoprotein cholesterol measurement (EFO:0008317)
 PMID:35213538
GCST90093035 Concentration of very small VLDL particles 115,082 European ancestry individuals C 0.989242 2E-9 8.698970004336019 NR [11722792] (imputed) 0.118129 very low density lipoprotein cholesterol measurement (EFO:0008317)
 PMID:35213538
GCST90093034 Total lipid levels in very small VLDL 115,082 European ancestry individuals C 0.989242 1E-9 9.0 NR [11722792] (imputed) 0.119721 very low density lipoprotein cholesterol measurement (EFO:0008317)
lipid measurement (EFO:0004529)
 PMID:35213538

Variant Details
Variant Transcripts
Gene Symbol:APOA4
Accession:NM_000482
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLKAVVLTLALVAVAGARAEVSADQVATVMWDYFSQLSNNAKEAVEHLQKSELTQQLNALFQDKLGEVNTYAGDLQKKL
VPFATELHERLAKDSEKLKEEIGKELEELRARLLPHANEVSQKIGDNLRELQQRLEPYADQLRTQVSTQAEQLRRQLTPY
SQRMERVLRENADSLQASLRPHADELKAKIDQNVEELKGRLTPYADEFKVKIDQTVEELRRSLAPYAQDTQEKLNHQLEG
LTFQMKKNAEELKARISASAEELRQRLAPLAEDVRGNLRGNTEGLQKSLAELGGHLDQQVEEFRRRVEPYGENFNKALVQ
QMEQLRQKLGPHAGDVEGHLSFLEKDLRDKVNSFFSTFKEKESQDKTLSLPELEQQQEQQQEQQQEQVQMLAPLES*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002124979 CLINVAR
dbSNP (RS) rs12721043 CLINVAR
GWAS Catalog GCST90019495 GWAS Catalog
  GCST90019510 GWAS Catalog
  GCST90019523 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene APOA4 CLINVAR
OMIM 107690 CLINVAR