Table 2 Genetic variants from PharmGKB (P-value < 0.01) and ClinVar (BH adjusted P-value < 0.05) databases which demonstrated highly significant differences in allele frequency between NVSB and NFE
From: Exome-wide survey of the Siberian Caucasian population
Chr:Position | SNP ID | Reference allele/subsitution | Frequency in NVSB | Frequency in NFE | P-Value | BH adjusted P-value | Gene | Drug (PharmGKB evidence level)/Clinvar annotation (number of reports) | Phenotype | |
|---|---|---|---|---|---|---|---|---|---|---|
2:88424066 | rs2241883 | T/C | 0.5513 | 0.3171 | 3.55E-05 | 0.016046 | FABP1 | fenofibrate (3) | Hypertriglyceridemia | PharmGKB variants |
14:64700045 | rs944050 | T/C | 0.141 | 0.03682 | 0.0002365 | 0.047987333 | ESR2 | gemcitabine (3) | Pancreatic Neoplasms | |
15:75129594 | rs2290573 | G/A | 0.2949 | 0.5095 | 0.0003185 | 0.047987333 | ULK3 | imatinib (3) | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | |
5:79950508 | rs1105525 | C/T | 0.2949 | 0.1425 | 0.001166 | 0.131758 | DHFR | methotrexate (3) | Precursor Cell Lymphoblastic Leukemia-Lymphoma | |
1:161479745 | rs1801274 | A/G | 0.3205 | 0.5071 | 0.002335 | 0.211084 | FCGR2A | trastuzumab (2B) | Breast Neoplasms | |
1:70904800 | rs1021737 | G/T | 0.3974 | 0.247 | 0.005383 | 0.2702056 | CTH | busulfan, cyclophosphamide (3) | Hemopoietic stem cell transplant | |
1:171076966 | rs2266782 | G/A | 0.5256 | 0.3587 | 0.004475 | 0.2702056 | FMO3 | sulindac, itopride (3) | NA | |
1:230845794 | rs699 | A/G | 0.5769 | 0.4097 | 0.005978 | 0.2702056 | AGT | atenolol, irbesartan (3) | Hypertension | |
2:65296798 | rs7572857 | G/A | 0.3077 | 0.1746 | 0.00565 | 0.2702056 | CEP68 | aspirin (3) | Asthma | |
11:126162843 | rs8177374 | C/T | 0.07692 | 0.1983 | 0.00425 | 0.2702056 | TIRAP | ustekinumab (3) | Psoriasis | |
3:113890815 | rs6280 | C/T | 0.8077 | 0.6615 | 0.008071 | 0.307736667 | DRD3 | risperidone (3) | Autistic disorder | |
7:150696111 | rs1799983 | T/G | 0.7821 | 0.6306 | 0.00817 | 0.307736667 | NOS3 | cyclophosphamide, doxorubicin, fluorouracil, methotrexate (3) | Breast Neoplasms | |
1:161599693 | rs448740 | T/C | 0.97436 | 0.6627 | 1.00E-06 | 0.00021 | FCGR3B | Pathogenic (1) | Neutrophil-specific antigens na1/na2 | ClinVar variants |
11:89017961 | rs1126809 | G/A | 0.0641 | 0.272 | 4.00E-06 | 0.00042 | TYR | Benign(2);Likely benign(1); Pathogenic(3); Uncertain significance(1) | Albinism, melanoma | |
15:28228553 | rs74653330 | C/T | 0.0641 | 0.001188 | 9.00E-06 | 0.00063 | OCA2 | Likely benign(2);Pathogenic(1); Uncertain significance(1) | Tyrosinase-positive oculocutaneous albinism | |
1:145507765 | rs201779890 | G/C | 0.05128 | 0.001188 | 0.0001065 | 0.0037275 | RBM8A | Pathogenic/Likely pathogenic | Radial aplasia-thrombocytopenia syndrome | |
17:42338993 | rs45562031 | C/T | 0.1154 | 0.02138 | 8.30E-05 | 0.0037275 | SLC4A1 | Likely benign(2);Likely pathogenic(1); Pathogenic(1); Uncertain significance(2) | Spherocytosis type 4 | |
22:29121087 | rs17879961 | A/G | 0.05128 | 0.001188 | 0.0001025 | 0.0037275 | CHEK2 | Likely pathogenic(4);Pathogenic(7); Uncertain significance(2) | Cancer of multiple types, susceptibility | |
16:89986144 | rs1805008 | C/T | 0.1667 | 0.06176 | 0.001211 | 0.03633 | MC1R | Likely benign(2);Pathogenic(1) | Skin conditions |