TABLE 1.
Name of Gene | Chromosome | Position (Base Pairs) | Association dbSNP | −log(P) | Nonsynonymous dbSNP | Exon | Amino Acid Substitution | Phenotype (%) | Allele Frequency |
Tns1 | 1 | 72920639 | rs3021883 | 4.1 | rs40124058 | 19 | L944V | 20.1 | 30.5 |
rs36340401 | 35 | N1882S | 20.3 | 30.5 | |||||
Slco4c1 | 1 | 98701146 | rs13476000 | 5.6 | rs37471241 | 13 | T707A | 16.3 | 37.6 |
Ikbkap | 4 | 56426555 | rs32078659 | 4.8 | rs27869828 | 11 | I345V | 11.3 | 24.5 |
rs27869847 | 18 | G662V | 11.3 | 24.5 | |||||
rs27835086 | 36 | A1309V | 17.7 | 23.4 | |||||
Ncor2 | 5 | 125502713 | rs33262018 | 4.2 | rs36571333 | 44 | T2229A | 14.4 | 24.2 |
Aacs | 5 | 125996775 | rs29541719 | 4.6 | rs38516850 | 1 | Q5R | 20.0 | 28.1 |
rs36769124 | 9 | T321I | 20.0 | 28.1 | |||||
Fry | 5 | 151155327 | rs3684936 | 4.1 | rs50343365 | 22 | T2568A | 13.5 | 19.1 |
Cyp11a1 | 9 | 58075842 | rs3674363 | 5.0 | rs47078233 | 9 | N522D | 13.7 | 14.1 |
Ttk | 9 | 84014785 | rs30022241 | 4.9 | rs33070516 | 9 | *302L | 11.6 | 47.8 |
rs33070518 | 9 | T306P | 11.6 | 47.8 | |||||
Tnfrsf19 | 14 | 61611931 | rs30388803 | 4.4 | rs37583013 | 9 | T342A | 14.4 | 40.0 |
rs37057546 | 9 | N286D | 14.4 | 40.0 | |||||
Slc38a4 | 15 | 96687641 | rs32255071 | 6.3 | rs46306226 | 16 | N544S | 12.6 | 17.9 |
Slc35a5 | 16 | 45150868 | rs4180445 | 4.1 | rs32739736 | 6 | H403R | 12.0 | 48.1 |
Definition of abbreviations: Tns1, tensin 1; Slco4c1, solute carrier organic anion transporter family, member 4C1; IkbKap, inhibitor of kappa light polypeptide enhancer in B cells; Ncor2, nuclear receptor co-repressor 2; Aacs, acetoacetyl coenzyme A synthetase; Fry, furry homolog; Cyp11a1, cytochrome P450 family 11, subfamily A, polypeptide 1; Ttk, Ttk protein kinase; Tnfrsf19, tumor necrosis factor receptor superfamily, member 19; Slc38a4, solute carrier family 38, member 4; Slc35a5, solute carrier family 35, member 5; dbSNP, Single Nucleotide Polymorphism Database at NCBI; rs number, dbSNP reference sequence.