rs140201358 Rat Genome Database

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Variant: rs140201358 -  Homo sapiens

RGD ID: 11545027
RS ID: rs140201358
ClinVar ID: CV254346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPLA2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 823,586
GRCh38 11 823,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023394.1:g.9686C>G
NC_000011.10:g.823586C>G
NC_000011.9:g.823586C>G
NP_065109.1:p.Asn252Lys
More... 		04/19/2021 missense variant benign|likely benign AllHighlyPenetrant; Neutral lipid storage disease with myopathy; Neutral lipid storage disease without ichthyosis; none provided
Disease Annotations     Click to see Annotation Detail View

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
GCST90271622 Nonalcoholic fatty liver disease 691,479 European ancestry, African American or Afro-Caribbean, East Asian ancestry, Hispanic or Latin American, South Asian ancestry individuals G 0.01 4E-8 7.3979400086720375 NR [10696387] (imputed) 5.5 non-alcoholic fatty liver disease (EFO:0003095)
 PMID:37709864
GCST010242 HDL cholesterol levels 403,943 European ancestry individuals C 0.986274 2E-12 11.698970004336019 Affymetrix [NR] (imputed) 0.0578616 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:32203549
GCST009867 Waist circumference adjusted for body mass index 457,690 European ancestry individuals ? NR 1E-11 11.0 Affymetrix [~ 8270000] (imputed) N/A BMI-adjusted waist circumference (EFO:0007789)
 PMID:31669095
GCST009858 Waist-to-hip ratio adjusted for BMI 457,690 European ancestry individuals ? NR 1E-23 23.0 Affymetrix [~ 8270000] (imputed) N/A BMI-adjusted waist-hip ratio (EFO:0007788)
 PMID:31669095
GCST008996 Waist-hip ratio 697,734 European ancestry individuals C 0.9868 8E-11 10.096910013008056 NR [~ 27400000] (imputed) 0.0557 waist-hip ratio (EFO:0004343)
 PMID:30239722
GCST008997 Waist-hip ratio 381,152 European female individuals C 0.9868 8E-11 10.096910013008056 NR [~ 27400000] (imputed) 0.0557 waist-hip ratio (EFO:0004343)
 PMID:30239722
GCST008994 Waist-to-hip ratio adjusted for BMI 379,501 European ancestry female individuals C 0.9868 1E-22 22.0 NR [~ 27400000] (imputed) 0.0848 BMI-adjusted waist-hip ratio (EFO:0007788)
 PMID:30239722
GCST007067 Waist-hip ratio approximately 458,000 European ancestry individuals ? NR 6E-25 24.221848749616356 NR [~ 8900000] (imputed) N/A waist-hip ratio (EFO:0004343)
 PMID:30595370
GCST90295949 Triglyceride to HDL cholesterol ratio 402,398 European ancestry individuals G 0.0138 1E-8 8.0 NR [11253896] (imputed) 0.077 triglyceride:HDL cholesterol ratio (EFO:0007929)
 PMID:38200128
GCST90295951 Triglyceride to HDL cholesterol ratio 216,649 European ancestry individuals G 0.0139 6E-10 9.221848749616356 NR [11257953] (imputed) 0.0959 triglyceride:HDL cholesterol ratio (EFO:0007929)
 PMID:38200128
GCST012228 Waist-hip index 186,825 British ancestry men G NR 3E-8 7.522878745280337 Affymetrix [127266] (imputed) 0.0735908 BMI-adjusted waist-hip ratio (EFO:0007788)
 PMID:34021172
GCST90239649 High density lipoprotein cholesterol levels 40,963 South Asian ancestry individuals, 48,057 Hispanic individuals, 99,432 Admixed African or African ancestry individuals, 146,492 East Asian ancestry individuals, 1,320,016 European ancestry individuals ? NR 9E-17 16.045757490560675 NR [52000000] (imputed) N/A high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:34887591
GCST90239652 High density lipoprotein cholesterol levels 1,320,016 European ancestry individuals G 0.0130732 3E-13 12.522878745280337 NR [52000000] (imputed) 0.0586188 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:34887591
GCST90020024 A body shape index 219,872 British ancestry women G NR 4E-9 8.397940008672037 Affymetrix [321169] (imputed) 0.071108 BMI-adjusted waist circumference (EFO:0007789)
 PMID:34021172
GCST90020026 Hip index 219,872 British ancestry women G NR 6E-9 8.221848749616356 Affymetrix [321788] (imputed) 0.0724052 BMI-adjusted hip circumference (EFO:0008039)
 PMID:34021172
GCST90020025 Waist-to-hip ratio adjusted for BMI 219,872 British ancestry women G NR 5E-17 16.30102999566398 Affymetrix [319769] (imputed) 0.100429 BMI-adjusted waist-hip ratio (EFO:0007788)
 PMID:34021172
GCST90020027 Waist-hip index 219,872 British ancestry women G NR 7E-17 16.154901959985743 Affymetrix [319769] (imputed) 0.100072 BMI-adjusted waist-hip ratio (EFO:0007788)
 PMID:34021172
GCST90020028 Hip circumference adjusted for BMI 219,872 British ancestry women G NR 9E-9 8.045757490560675 Affymetrix [321016] (imputed) 0.0689152 BMI-adjusted hip circumference (EFO:0008039)
 PMID:34021172

Variant Details
Variant Transcripts
Gene Symbol:PNPLA2
Accession:NM_020376
Location:EXON

Variant Samples
Additional References at PubMed
PMID:16644682   PMID:21170305   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000244582 CLINVAR
  RCV000543501 CLINVAR
  RCV001722337 CLINVAR
dbSNP (RS) rs140201358 CLINVAR
GWAS Catalog GCST012228 GWAS Catalog
  GCST90020024 GWAS Catalog
  GCST90020025 GWAS Catalog
  GCST90020026 GWAS Catalog
  GCST90020027 GWAS Catalog
  GCST90020028 GWAS Catalog
  GCST90239652 GWAS Catalog
MedGen C1853136 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNPLA2 CLINVAR
OMIM 609059 CLINVAR
  610717 CLINVAR