U.S. Genome Variation Estimates

Genetic Variants Index, By Gene

Allele and Genotype Frequencies
Please click on the gene name in either of the tables below to view the allele and genotype frequency summary tables and Hardy-Weinberg (HW) results for the available polymorphisms within each gene.

ABCB1 CAPN10 F2 NAT2 ACE CAT F5 NOS2A ADH1B CBS FAM82A** NOS3 ADH1C CCL5 FCGR2A NQO1 ADRB1 CCR2 FGB OGG1 ADRB2 CXCL12 IL10 PON1 ADRB3 CYP1A1 IL1B PPARG ALAD CYP1A2 IL4 SERPINE1 CYP1B1 IL4R TGFB1/B9D2¶   CYP2A6 ITGA2 TLR4   CYP2C19 ITGB3 TNF   CYP2C9 MBL2 VDR   CYP2E1 MTHFR XRCC1   CYP3A4 MTRR

Demographic Characteristics Gene Variants Index      • by gene      • by pathway Allele and Genotype Frequencies Genotyping Methods      • Details of genotyping assays      • TaqMan assays      • Other methods Suggested Citation

** FAM82A is a hypothetical protein that lies immediately 5' of CYP1B1. This variant may be an intronic polymorphism of FAM82A or a CYP1B1 variant that lies 3’ of the gene
¶ B9D2 is a protein that lies partially within the TGFB1 promoter. The variants genotyped lie within B9D2 but are believed to be promoter polymorphisms of TGFB1.

Table 1 - Genetic Variants Available, by Gene
[View Table 2 - Genes Available, By Pathway]

Official gene symbols and names are from the HUGO Gene Nomenclature Committee. All chromosomal positions are from Entrez Gene.

* Unique identifier in the Entrez SNP (single nucleotide polymorphisim) database at NCBI.            
† Nucleotide and amino acid change information are from the SNP500 Cancer database and dbSNP. Alternate designations and additional locus information are given, if available. 
‡ Inclusion of genes in pathways is based on information gathered from the GeneCards database, the KEGG GENES database, and selected publications for ACE (1, 2), CAPN10 (3), and SERPINE1 (4-6).
§ Nutrient metabolism encompasses the intracellular and physiological metabolism of nucleotides, amino acids and proteins, carbohydrates (e.g., glucose), lipids, cofactors, vitamins, and hormones (e.g., estrogen).
¶ B9D2 is a protein that lies partially within the TGFB1 promoter. Although within B9D2, these two SNPs are believed to be promoter polymorphisms of TGFB1.
** FAM82A is a hypothetical protein that lies immediately 5' of CYP1B1. This variant may be an intronic polymorphism of FAM82A or a CYP1B1 variant that lies 3’ of the gene

References

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