Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs1799853

Hard Link
rs1799853 is a snp on gene CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9)

GeneCYP2C9 Chromosome number 10 Chromosome position 94942290
Alleles C/T Minor Allele T Minor Allele Frequency 0.0479
Notation *2 C430T Cys144Arg Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Missense variant.
Gene Function

CYP2C9 encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are phase I detoxification enzymes which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP2C9 expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is quite variable among individuals. CYP2C9 is an important cytochrome P450 enzyme with a major role in the oxidation of both xenobiotic and endogenous compounds. CYP2C9 makes up about 18% of the cytochrome P450 protein in the liver. Some 100 therapeutic drugs are metabolized ㅡby CYP2C9, including drugs with a narrow therapeutic index such as warfarin and phenytoin and other routinely prescribed drugs such as acenocoumarol, tolbutamide, losartan, glipizide, and some nonsteroidal anti-inflammatory drugs. The CYP2C9 gene is highly polymorphic. More than 50 single nucleotide polymorphisms (SNPs) have been described.

CYP family in general may play a much larger role in redox mechanisms as it is a major consumer of NADPH, an important reducing agent for glutathione recycling. These enzymes also play a major role in cell danger signaling and cell turnover as it interacts electrically with the apoptosis mechanisms controlled by mitochondria.

GWAS Pathologies
Warfarin maintenance dose (?)
Pharmacogenomics
Warfarin (T): Poor drug metabolizer, lower dose requirements
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

CURATED





MOST RECENT SEARCHES:
rs13063628 (THRB) | rs225014 (DIO2) | rs12885300 (DIO2-AS1) | rs12095080 (DIO1) | rs1991517 (LOC101928462) | rs2235544 (DIO1) | rs651852 (BHMT) | rs1801131 (MTHFR) | rs1799853 (CYP2C9) | rs1801181 (CBS) | rs1801394 (MTRR)

MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2569191 (CD14) | rs20541 (IL13) | rs2844682 (MUC21) | rs4680 (COMT) | rs2476601 (PTPN22) | rs6025 (F5) | rs2075252 (LRP2) | rs1801181 (CBS)








LURP™ IS A REGISTERED TRADEMARK ® OF DATAPUNK BIOINFORMATICS, LLC. COPYRIGHT © 2015, 2016, 2017 ALL RIGHTS RESERVED.    |    DEVELOPER BLOG     |