Table 4.
P value | |||||||
---|---|---|---|---|---|---|---|
Disease/phenotype | Gene | HGMD Accession | GenBank Accession | NTs | SNP | P(dmax) | P(rmin) |
Pseudohypoaldosteronism | NR3C2 | CR030126 | NM_000901.4 | 5,898 | c.-2C>G | 0.017 | 0.022 |
Hypertension | EDN2 | CR994679 | NM_001956.3 | 1,243 | c.*390G>A | 0.036 | 0.021 |
Obesity | CNR1 | CR073542 | NM_033181.3 | 5,373 | c.*2394A>G | 0.032 | 0.036 |
Myocardial infarction | GP1BA | CR022116 | NM_000173.5 | 2,463 | c.-5T>C | 0.040 | 0.037 |
Colorectal cancer | INSR | CR082021 | NM_001079817.1 | 9,023 | c.*104A>G | 0.042 | 0.030 |
Graves’ disease | FCRL3 | CR067134 | NM_052939.3 | 3,019 | c.-11G>C | 0.011 | 0.042 |
Increased triglyceride levels | ABCA1 | CR025352 | NM_005502.3 | 10,502 | c.-279C>G | 0.044 | 0.022 |
Insulin resistance and hypertension | RETN | CR032443 | NM_020415.3 | 478 | c.*62G>A | 0.045 | 0.043 |
Cartilage-hair hypoplasia | RMRP | CR063417 | NR_003051.3 | 268 | n.215A>G | 0.048 | 0.027 |
Hypercholesterolemia | LDLR | CR971948 | NM_000527.4 | 5,283 | c.-14C>A | 0.025 | 0.048 |
Glaucoma | CYP1B1 | CR032431 | NM_000104.3 | 5,153 | c.-286C>T | 0.063 | 0.036 |
Reduced transcriptional activity | NR3C1 | CR016150 | NM_001024094.1 | 6,787 | c.-219C>A | 0.044 | 0.063 |
HDL cholesterol levels | LIPG | CR032437 | NM_006033.2 | 4,141 | c.*482A>G | 0.051 | 0.065 |
Factor VII deficiency | F7 | CR090334 | NM_019616.2 | 3,059 | c.-44T>C | 0.066 | 0.042 |
Hemophilia A | F8 | CR070421 | NM_000132.3 | 9,035 | c.-112G>A | 0.074 | 0.010 |
Cartilage-hair hypoplasia | RMRP | CR064472 | NR_003051.3 | 268 | n.10T>C | 0.076 | 0.024 |
Von Hippel–Lindau syndrome | VHL | CR011856 | NM_000551.3 | 4560 | c.*7C>G | 0.076 | 0.065 |
Obesity | SLC6A14 | CR035766 | NM_007231.3 | 4,564 | c.*178C>G | 0.078 | 0.062 |
Spastic paraplegia 31 | REEP1 | CR082030 | NM_022912.2 | 3,853 | c.*14C>T | 0.033 | 0.081 |
Hyperferritinemia-cataract syndrome | FTL | CR061334 | NM_000146.3 | 871 | c.-178T>G | 0.052 | 0.097 |
The SNPs were described according to HGVS nomenclature. SNPs, which have been predicted to have significant global structural effect using SNPfold [Halvorsen et al., 2010], are highlighted with gray background color.