rs118204057 Rat Genome Database

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Variant: rs118204057 -  Homo sapiens

RGD ID: 8556285
RS ID: rs118204057
ClinVar ID: CV16561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LPL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 19,811,733
GRCh38 8 19,954,222
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
P06858:p.Gly215Glu
NG_008855.2:g.57506G>A
NM_000237.3:c.644G>A
NM_000237.2:c.644G>A
More... 		01/29/2024 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance childhood 1-9 / 1 000 000 Familial chylomicronemia; Familial hyperlipo-proteinemia type 1; Familial Lipoprotein Lipase Deficiency; Hyperapobetalipoproteinemia; Hyperchylomicro-nemia familial; Hyperlipemia essential familial; Hyperlipemia idiopathic Burger-Grutz type; Hyperlipidemia, familial combined; Hyperlipoproteinemia type 1; Hyperlipoproteinemia, type I; HYPERLIPOPROTEINEMIA, TYPE IA; Lipase D deficiency; Lipoprotein lipase deficiency; LPL deficiency; LPL-related condition; none provided
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Experimental Data Annotations     Click to see Annotation Detail View

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS855741_H GCST90025957 Triglyceride levels 437,532 European ancestry individuals ? NR 2E-44 43.699 rs118204057 0.705786 triglyceride measurement (EFO:0004530)
 PMID:34226706
GWAS862569_H GCST90025956 HDL cholesterol levels 400,754 European ancestry individuals ? NR 2E-77 76.699 rs118204057 0.919948 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:34226706
GWAS865140_H GCST90025955 Apolipoprotein A1 levels 398,508 European ancestry individuals ? NR 9E-51 50.046 rs118204057 0.785987 apolipoprotein A 1 measurement (EFO:0004614)
 PMID:34226706
GWAS895620_H GCST90019495 Apolipoprotein A1 levels 311,601 European ancestry individuals, 5,550 African ancestry individuals, 6,682 South Asian ancestry individuals A NR 6E-39 38.222 rs118204057 0.7479 apolipoprotein A 1 measurement (EFO:0004614)
 PMID:33462484
GWAS966326_H 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-57 56.046 rs118204057 0.9078 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:33462484
GWAS987879_H GCST90019523 Triglyceride levels 342,233 European ancestry individuals, 6,014 African ancestry individuals, 7,330 South Asian ancestry individuals A NR 3E-36 35.523 rs118204057 0.6898 triglyceride measurement (EFO:0004530)
 PMID:33462484

Variant Details
Variant Transcripts
Gene Symbol:LPL
Accession:NM_000237
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKALLVLTLAVWLQSLTASRGGVAAADQRRDFIDIESKFALRTPEDTAEDTCHLIPGVAESVATCHFNHSSKTFMVIH
GWTVTGMYESWVPKLVAALYKREPDSNVIVVDWLSRAQEHYPVSAGYTKLVGQDVARFINWMEEEFNYPLDNVHLLGYSL
GAHAAGIAGSLTNKKVNRITGLDPAGPNFEYAEAPSRLSPDDADFVDVLHTFTRESPGRSIGIQKPVGHVDIYPNGGTFQ
PGCNIGEAIRVIAERGLGDVDQLVKCSHERSIHLFIDSLLNEENPSKAYRCSSKEAFEKGLCLSCRKNRCNNLGYEINKV
RAKRSSKMYLKTRSQMPYKVFHYQVKIHFSGTESETHTNQAFEISLYGTVAESENIPFTLPEVSTNKTYSFLIYTEVDIG
ELLMLKLKWKSDSYFSWSDWWSSPGFAIQKIRVKAGETQKKVIFCSREKVSHLQKGKAPAVFVKCHDKSLNKKSG*
Variant Samples
Additional References at PubMed
PMID:1351946   PMID:1400331   PMID:1619366   PMID:1872917   PMID:1969408   PMID:1975597   PMID:2394828   PMID:2914262   PMID:6645961   PMID:9401010   PMID:10359734   PMID:11334614  
PMID:12905705   PMID:18922999   PMID:22095987   PMID:24503134   PMID:24591733   PMID:24747307   PMID:24793350   PMID:25741868   PMID:25966443   PMID:26337181   PMID:27055971   PMID:28438574  
PMID:28492532   PMID:29054425   PMID:29288010   PMID:29748148   PMID:30150141   PMID:30210108   PMID:30352774   PMID:31589614   PMID:32041611   PMID:32472350   PMID:33303402   PMID:34363016  
PMID:35837325  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001586 CLINVAR
  RCV000521241 CLINVAR
  RCV000763181 CLINVAR
  RCV001248904 CLINVAR
  RCV002362549 CLINVAR
  RCV003415622 CLINVAR
dbSNP (RS) rs118204057 CLINVAR
GWAS Catalog GCST90019495 GWAS Catalog
  GCST90019510 GWAS Catalog
  GCST90019523 GWAS Catalog
MedGen C0020474 CLINVAR
  C0023817 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene LPL CLINVAR
OMIM 144250 CLINVAR
  238600 CLINVAR
  609708 CLINVAR
OMIM Allele 609708.0002 CLINVAR
SNOMED CT 275598004 CLINVAR