From: Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases
Closest Candidate Gene | rs Numbera (r2)b | Status (reported / genotyped) | Position | SNPsc (ancestral / derived) | Reported associationd | Max. allele frequency difference (YRI vs. any) | Allele frequency difference YRI vs. CEU | Function or location | Ref. |
---|---|---|---|---|---|---|---|---|---|
AGT Angiotensin I | rs699 | R/G | Chr1: 228.912.667 | C/T | Hypertension, Preeclampsia | 52,5% | 52,5% | missense | |
 | rs4762 | R | Chr1: 228.912.850 | C/T | Hypertension | 3,3% | 3,3% | missense |  |
 | rs5051 (r2 0.948 to rs699) | R | Chr1: 228.916.745 | A/G | Hypertension | 52,1% | 52,1% | 5′UTR |  |
GALNT2 Polypeptide N-acetylgalactosaminyl-transferase 2 | rs4846914 | R/G | Chr1: 228.362.564 | G/A | HDL | 58,0% | 58,0% | intron | |
rs611229 | G | Chr1: 228.390.690 | G/T | tagging SNP | 39,4% | 39,4% | intron | - | |
 | rs2144300 (r2 0.933 to rs4846914) | R | Chr1: 228.361.789 | C/T | HDL, Triglycerides | 57,0% | 57,0% | intron | [20] |
IFIH1 Interferon induced with helicase C domain 1 | rs1990760 | R/G | Chr2: 162.832.547 | C/T | T2D | 54,0% | 54,0% | missense / benign | [21] |
SLC2A Solute carrier family 2, facilitated glucose transporter member 2 | rs5400 | R/G. | Chr3: 172.215.244 | T/C | T2D | 48,1% | 35,0% | missense / damaging | [9] |
rs6785233 | G | Chr3: 172.239.679 | G/T | tagging SNP | 50,8% | 38,3% | - | - | |
 | rs8192675 | G | Chr3: 172.207.577 | G/A | tagging SNP | 76,7% | 50,0% | - | - |
IGF2BP2 Insulin-like growth factor 2 mRNA binding | rs1470579 | R/G | Chr3: 187.012.024 | C/A | T2D | 60,0% | 56,8% | intron | [22] |
ENPP1 Ectonucleotide pyrophosphatase | rs1044498 | R/G | Chr6: 132.214.311 | C/A | Insulin resistance, T2D (early onset), Myocardial infarction (early onset) | 94,4% | 87,3% | missense / benign | |
 | rs9493119 | G | Chr6: 132.253.111 | G/A | tagging SNP | 30,0% | 20,8% | - | - |
CYP3A_ Locus Cytochrom P450 | rs776746 | R/G. | Chr7: 99.108.725 | A/G | Hypertension; Salt sensitivity | 79,2% | 79,2% | CYP3A5_ intron | |
rs10211 | G | Chr7: 99.140.930 | G/A | tagging SNP | 67,0% | 67,0% | 3′UTR_CYP3A7 | - | |
 | rs667660 | G | Chr7: 99.257.162 | C/A | tagging SNP | 74,3% | 74,3% | upstream CYP3a3 | - |
MTMR9 Myotubularin related protein 9 | rs10091637 | G | Chr8: 11.181.724 | C/T | tagging SNP | 36,9% | 29,2% | intron | - |
rs11250127 | G | Chr8: 11.207.619 | G/A | tagging SNP | 66,4% | 26,5% | intron | - | |
 | rs2293855 (r2 1.00 to rs11250127) | R | Chr8: 11.215.070 | G/A | Obesity | 64,2% | 25,2% | intron | [24] |
ABCA1 ATP-binding cassette transporter | rs4149268 | R/G. | Chr9: 106.687.291 | T/C | HDL | 51,0% | 46,0% | intron | [20] |
rs4149274 | R | Chr9: 106.679.485 | A/G | HDL | 4,0% | 2,0% | intron | [20] | |
 | rs1883025 | R | Chr9: 106.704.372 | T/C | HDL | 13,5% | 10,0% | intron | [19] |
GAD2 Glutamate decarboxylase 2 | rs2236418 | R/G. | Chr10: 26.545.752 | G/A | Obesity | 74,9% | 74,9% | 5′UTR | [9] |
rs2839670 | G | Chr10: 26.544.346 | A/C | tagging SNP | 60,0% | 60,0% | upstream | - | |
rs6482538 | G | Chr10: 26.549.870 | G/A | tagging SNP | 63,6% | 63,6% | intron | - | |
rs7076544 | G | Chr10: 26.597.731 | G/A | tagging SNP | 68,0% | 68,0% | intron | - | |
 | rs8190748 | G | Chr10: 26.609.761 | G/A | tagging SNP | 60,20% | 60,20% | intron | - |
Chr 12q13 ERBB3 Avian erythroplastic leukemia viral oncogen homolog 3 | rs11171739 | R/G | Chr11: 54.757.142 | C/T | T2D | 56,0% | 48,0% | ERBB3 ~4kb downstream | [21] |
KCTD10 Potassium channel tetramerisation domain | rs7298565 | G | Chr12: 108.421.917 | A/G | tagging SNP | 57,7% | 24,1% | missense | - |
 | rs2338104 (r2 0.98 to rs7298565) | R | Chr12: 108.379.801 | G/C | HDL | 45,0% | 25,0% | KCTD10 intron; MYO1H ~9kb upstream | |
CYP19A1 / GLDN Cytochrom P450 / Gliomedin | rs2446405 | R/G | Chr15: 49.434.335 | A/T | Insulin Resistance | 43,0% | 43,0% | GLDN intron | [25] |
rs12592797 | G | Chr15: 49.426.928 | A/C | tagging SNP | 52,5% | 52,5% | GLDN intron | - | |
 | rs2445761 | G | Chr15: 49.402.908 | C/T | tagging SNP | 40,9% | 40,9% | CYP19A1 intron | - |
BBS4 Bardet-Biedl syndrome-4 | rs7178130 | R/G | Chr15: 70.765.505 | G/A | Bardet-Biedl Syndrome; Obesity | 50,0% | 50,0% | upstream 5′ | [26] |
C18orf8 / NCP1 Chromosome 18 open reading frame 8 / Niemann-Pick disease, type C1 | rs891386 | R/G | Chr18: 19.357.969 | A/C | tagging SNP | 42,5% | 42,5% | CRC associated Protein | [27] |
 | rs1805081 (r2 0.84 to rs891386) | R | Chr18: 19.394.680 | A/G | BMI | 46,7% | 46,7% | missense |  |