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. 2013 Jan 11;34(4):546–556. doi: 10.1002/humu.22273

Table 4.

List of Disease-Associated SNPs that are Predicted to have Significant Local Structural Effect (P < 0.1) Based on RNAfold with the Scores dmax and rmin

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.