Annotation Detail

Information

Associated Genes: PON1
Associated Variants: PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
Associated Disease: Coronary artery disease, susceptibility to
Source Database: ClinVar
Description: NM_000446.7(PON1):c.575A>G (p.Gln192Arg) AND Coronary artery disease, susceptibility to
ClinVar Allele ID: 28774
ClinVar RefSeq Alternation Syntax: NM_000446.7:c.575A>G
Clinical Significance Description: risk factor
Clinical Significance Last Update: 2011-01-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014739
ClinVar Disease: Coronary artery disease, susceptibility to
Observed Origin Sample: germline
Pubmed: 7916578
Pubmed: 12082503
Pubmed: 15241482
Pubmed: 9443884
Pubmed: 9385372
Pubmed: 21170047
Pubmed: 8675673
Pubmed: 8098250
Pubmed: 8770857
Pubmed: 11238489
Pubmed: 9215303
Pubmed: 11810302
Pubmed: 11888590

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