Table 1 - Genetic Variants Available, by Gene
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View Table 2 – Genes Available, By Pathway[PDF 101KB]
| Gene symbol | Gene name | Chromosomal position of gene | Variant (dbSNP ID)* | Nucleotide change† | Amino acid change† | Cellular or physiological pathway(s)‡ |
|---|---|---|---|---|---|---|
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
7q21.1
|
rs1045642
|
Ex27-55T>C T3435C
|
Ile1145Ile
|
Xenobiotic metabolism | |
|
Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
|
17q23.3
|
rs4646994
|
289-bp Alu insertion/deletion in intron 16
|
Blood pressure regulation; Nutrient metabolism§ | ||
|
Alcohol dehydrogenase IB (class I), beta polypeptide
|
4q21-q23
|
rs1229984
|
Ex3+23G>A
|
Arg48His
|
Nutrient metabolism; Xenobiotic metabolism | |
|
rs17033
|
Ex9+77A>G
|
|
||||
|
rs2066702
|
Ex9+5C>T
|
Arg370Cys
|
||||
|
Alcohol dehydrogenase 1C (class I), gamma polypeptide
|
4q21-q23
|
rs1693482
|
Ex6-14G>A
|
Arg272Gln
|
Nutrient metabolism; Xenobiotic metabolism | |
|
rs698
|
Ex8-56A>G
|
Ile350Val
|
||||
|
Adrenergic, beta-1-, receptor
|
10q24-q26
|
rs1801252
|
Ex1+231A>G
|
Ser49Gly
|
Blood pressure regulation, Cardiac function; Nutrient metabolism | |
|
Adrenergic, beta-2-, receptor, surface
|
5q31-q32
|
rs1042713
|
Ex1+265G>A
|
Gly16Arg
|
Blood pressure regulation, Cardiac function; Nutrient metabolism | |
|
rs1042714
|
Ex1+298G>C
|
Glu27Gln
|
||||
|
Adrenergic, beta-3-, receptor
|
8p12-p11.2
|
rs4994
|
Ex1+387T>C
|
Trp64Arg
|
Nutrient metabolism | |
|
Aminolevulinate, delta-, dehydratase
|
9q33.1
|
rs1800435
|
Ex4+13G>C G177C
|
Lys68Asn Lys88Asn
|
Nutrient metabolism; Xenobiotic metabolism | |
|
B9 protein domain 2
|
19q13.2
|
rs1800468
|
Ex4-262G>A
-800G>A of TGFB1 |
|
Unknown | |
|
rs1800469
|
308bp 3′ of STP C>T
-509C>T of TGFB1 |
|
||||
|
Calpain 10
|
2q37.3
|
rs3792267
|
IVS3-176G>A
|
|
Apoptosis; Nutrient metabolism | |
|
Catalase
|
11p13
|
rs769214
|
-843A>G
|
|
Metabolism of free radicals/Oxidative stress; Nutrient metabolism | |
|
Cystathionine-beta-synthase
|
21q22.3
|
no rs number
|
844ins68 (68-bp insertion in exon 8)
|
|
Nutrient metabolism | |
|
Chemokine (C-C motif) ligand 5
|
17q11.2-q12
|
rs2280788
|
-95C>G
|
|
Cell migration/motility; Immunity and inflammation | |
|
Chemokine (C-C motif) receptor 2
|
3p21.31
|
rs1799864
|
Ex2+241G>A
|
Val64Ile
|
Cell migration/motility; Immunity and inflammation | |
|
Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)
|
10q11.1
|
rs169097
|
Ex5+709C>T
|
|
Cell migration/motility; Immunity and inflammation | |
|
Cytochrome P450, family 1, subfamily A, polypeptide 1
|
15q22-q24
|
rs2472299
|
-17961C>T
|
|
Nutrient metabolism; Xenobiotic metabolism | |
|
rs2606345
|
IVS1+606G>T
|
|
||||
|
Cytochrome P450, family 1, subfamily A, polypeptide 2
|
15q24
|
rs11854147
|
5341bp 3′ of STP C>T
|
|
Nutrient metabolism; Xenobiotic metabolism | |
|
rs2069514
|
-3859G>A
|
|
||||
|
rs4886406
|
9773bp 3′ of STP T>G
|
|
||||
|
Cytochrome P450, family 1, subfamily B, polypeptide 1
|
2p21
|
rs1056836
|
Ex3+251G>C
|
Val432Leu
|
Nutrient metabolism; Xenobiotic metabolism | |
|
rs1056837
|
Ex3+304T>C
|
Asp449Asp
|
||||
|
rs162557
|
-2919C>T
|
|
||||
|
Cytochrome P450, family 2, subfamily A, polypeptide 6
|
19q13.2
|
rs1801272
|
Ex3-15T>A
|
Leu160His
|
Nutrient metabolism; Xenobiotic metabolism | |
|
Cytochrome P450, family 2, subfamily C, polypeptide 19
|
10q24.1-q24.3
|
rs4986893
|
Ex4-7G>A
|
Trp212Stp
|
Nutrient metabolism; Xenobiotic metabolism | |
|
rs4986894
|
-97T>C
|
|
||||
|
Cytochrome P450, family 2, subfamily C, polypeptide 9
|
10q24
|
rs1057910
|
Ex7-75A>C
|
Ile359Leu
|
Nutrient metabolism; Xenobiotic metabolism | |
|
Cytochrome P450, family 2, subfamily E, polypeptide 1
|
10q24.3-qter
|
rs2031920
|
-1054C>T
-1053C>T |
|
Nutrient metabolism; Xenobiotic metabolism | |
|
Cytochrome P450, family 3, subfamily A, polypeptide 4
|
7q21.1
|
rs2740574
|
-391A>G
|
|
Nutrient metabolism; Xenobiotic metabolism | |
|
Coagulation factor II (thrombin)
|
11p11-q12
|
rs1799963
|
Ex14-1G>A
|
|
Cell migration/motility; Hemostasis | |
|
Coagulation factor V (proaccelerin, labile factor)
|
1q23
|
rs6025
|
Ex10-11G>A
|
Arg534Gln
|
Hemostasis | |
|
Family with sequence similarity 82, member A
|
2p22.2
|
rs163086
|
IVS10-1363C>T
|
|
Unknown | |
|
Fc fragment of IgG, low affinity IIa, receptor (CD32)
|
1q23
|
rs1801274
|
Ex4-120A>G
|
His166Arg His167Arg
|
Immunity and inflammation | |
|
Fibrinogen beta chain
|
4q28
|
rs1800790
|
-462G>A
|
|
Cellular adhesion; Hemostasis | |
|
Interleukin 10
|
1q31-q32
|
rs1800871
|
-853C>T
-819C>T |
|
Apoptosis, Cell cycle, Cellular growth and differentiation; Immunity and inflammation | |
|
rs1800872
|
-626C>A
-592C>A |
|
||||
|
rs1800896
|
-1116A>G
-1082A>G |
|
||||
|
Interleukin 1, beta
|
2q14
|
rs1143623
|
-2022G>C
|
|
Apoptosis, Cellular growth and differentiation; Immunity and inflammation | |
|
Interleukin 4
|
5q31.1
|
rs2243248
|
-1098T>G
|
|
Apoptosis, Cellular growth and differentiation; Immunity and inflammation | |
|
rs2243250
|
-588C>T
-524C>T -590C>T |
|
||||
|
rs2243270
|
IVS2-1297A>G
|
|
||||
|
Interleukin 4 receptor
|
16p11.2-12.1
|
rs1801275
|
Ex12+828A>G
|
Gln576Arg
|
Apoptosis, Cellular growth and differentiation; Immunity and inflammation | |
|
rs1805015
|
Ex12+608T>C
|
Ser503Pro
|
||||
|
Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
|
5q23-q31
|
rs1126643
|
Ex7-21C>T
|
Phe253Phe
|
Cellular adhesion, Cell migration/motility; Hemostasis | |
|
Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
17q21.32
|
rs5918
|
Ex3+11T>C
|
Leu59Pro
|
Apoptosis; Cellular adhesion, Cell migration/motility; Hemostasis | |
|
Mannose-binding lectin (protein C) 2, soluble (opsonic defect)
|
10q11.2-q21
|
rs11003125
|
-618G>C
-550G>C |
|
Immunity and inflammation | |
|
rs1800450
|
Ex1-27G>A
|
Gly54Asp
|
||||
|
rs1800451
|
Ex1-18G>A
|
Gly57Glu
|
||||
|
rs5030737
|
Ex1-34C>T
|
Arg52Cys
|
||||
|
rs7096206
|
-289G<C
-221G>C |
|
||||
|
5,10-methylenetetrahydrofolate reductase (NADPH)
|
1p36.3
|
rs1801131
|
Ex8-62A>C 1298A>C
|
Glu429Ala
|
Nutrient metabolism | |
|
rs1801133
|
Ex5+79C>T 677C>T
|
Ala222Val
|
||||
|
rs2066470
|
Ex2-120C>T
|
Pro39Pro
|
||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
5p15.3-p15.2
|
rs1801394
|
Ex2-64A>G
|
Ile22Met Ile49Met
|
Nutrient metabolism | |
|
N-acetyltransferase 2 (arylamine N-acetyltransferase)
|
8p22
|
rs1041983
|
Ex2+288C>T
|
Tyr94Tyr
|
Xenobiotic metabolism | |
|
rs1208
|
Ex2-367A>G
|
Lys268Arg
|
||||
|
rs1799930
|
Ex2-580G>A
|
Arg197Gln
|
||||
|
rs1801279
|
Ex2+197G>A
|
Arg64Gln
|
||||
|
rs1801280
|
Ex2+347T>C
|
Ile114Thr
|
||||
|
Nitric oxide synthase 2A (inducible, hepatocytes)
|
17q11.2-q12
|
rs1800482
|
G>C in promoter
|
|
Blood pressure regulation; Immunity and inflammation; Metabolism of free radicals/Oxidative stress; Nutrient metabolism | |
|
rs9282799
|
-2892C>T
-1173C>T |
|
||||
|
Nitric oxide synthase 3 (endothelial cell)
|
7q36
|
rs1799983
|
Ex8-63G>T
|
Glu298Asp
|
Blood pressure regulation, Cardiac function; Hemostasis; Metabolism of free radicals/Oxidative stress; Nutrient metabolism | |
|
rs2070744
|
IVS1-762T>C
-786T>C |
|
||||
|
NAD(P)H dehydrogenase, quinone 1
|
16q22.1
|
rs10517
|
Ex6-457C>T
|
|
Nutrient metabolism; Xenobiotic metabolism | |
|
rs1800566
|
Ex6+40C>T 609C>T
|
Pro187Ser Pro149Ser Pro153Ser
|
||||
|
rs34755915
|
IVS3+20G>A
|
|
||||
|
rs689452
|
IVS1-27C>G
|
|
||||
|
rs689453
|
Ex2+65G>A
|
Glu24Glu
|
||||
|
8-oxoguanine DNA glycosylase
|
3p26.2
|
rs1052133
|
Ex6-315C>G
|
Ser326Cys Pro332Ala
|
DNA Repair | |
|
Paraoxonase 1
|
7q21.3
|
rs662
|
Ex6+78A>G
|
Gln192Arg
|
Metabolism of free radicals/Oxidative stress; Xenobiotic metabolism | |
|
rs854560
|
Ex3+18T>A
|
Leu55Met
|
||||
|
Peroxisome proliferator-activated receptor gamma
|
3p25
|
rs1801282
|
Ex4-49C>G
|
Pro12Ala
|
Cellular growth and differentiation; Immunity and inflammation; Nutrient metabolism | |
|
Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
7q21.3-q22
|
rs1799762 rs1799768 rs1799889
|
4G/5G insertion/deletion in promoter
|
|
Cellular adhesion, Cell migration/motility; Hemostasis; Nutrient metabolism | |
|
Transforming growth factor, beta 1
|
19q13.1
|
rs1982073
|
Ex1-327C>T
|
Pro10Leu
|
Apoptosis, Cell cycle, Cellular growth and differentiation; Immunity and inflammation | |
|
Toll-like receptor 4
|
9q32-q33
|
rs4986790
|
Ex4+636A>G
|
Asp299Gly
|
Immunity and inflammation | |
|
Tumor necrosis factor (TNF superfamily, member 2)
|
6p21.3
|
rs1800629
|
-487G>A
-308G>A |
|
Apoptosis, Cell cycle, Cellular growth and differentiation; Immunity and inflammation; Nutrient metabolism | |
|
rs1800750
|
-555G>A
|
|
||||
|
rs361525
|
-417G>A
-238G>A |
|
||||
|
Vitamin D (1,25- dihydroxyvitamin D3) receptor
|
12q13.11
|
rs2239185
|
IVS8-3968C>T
|
|
Cellular growth and differentiation; Immunity and inflammation; Nutrient metabolism | |
|
rs731236
|
Ex11+32T>C
|
Ile352Ile
(TaqI variant) |
||||
|
X-ray repair complementing defective repair in Chinese hamster cells 1
|
19q13.2
|
rs1001581
|
IVS2-216G>A
|
|
DNA Repair | |
|
rs1799782
|
Ex6-22C>T
|
Arg194Trp
|
||||
|
rs25486
|
IVS9-59A>G
|
|
||||
|
rs25487
|
Ex10-4G>A
|
Arg399Gln
|
||||
|
rs25489
|
Ex9+16G>A
|
Arg280His
|
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
Related Links
References
- Hu J, Igarashi A, Kamata M, et al. Angiotensin-converting enzyme degrades Alzheimer amyloid beta-peptide (A beta); retards A beta aggregation, deposition, fibril formation; and inhibits cytotoxicity. J Biol Chem 2001;276:47863-8.
- Sayed-Tabatabaei FA, Oostra BA, Isaacs A, et al. ACE polymorphisms. Circ Res 2006;98:1123-33.
- Turner MD, Cassell PG, Hitman GA. Calpain-10: from genome search to function. Diabetes Metab Res Rev 2005;21:505-14.
- Durand MK, Bodker JS, Christensen A, et al. Plasminogen activator inhibitor-I and tumour growth, invasion, and metastasis. Thromb Haemost 2004;91:438-49.
- Lijnen HR. Pleiotropic functions of plasminogen activator inhibitor-1. J Thromb Haemost 2005;3:35-45.
- Alessi MC, Juhan-Vague I. PAI-1 and the metabolic syndrome: links, causes, and consequences. Arterioscler Thromb Vasc Biol 2006;26:2200-7.
- Page last reviewed: March 16, 2009 (archived document)
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