Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 157522 copy number loss GRCh38/hg38 5q21.3(chr5:108021878-108339280)x1 -1 - 5 107357579 107674981 na na 157522 copy number loss GRCh38/hg38 5q21.3(chr5:108021878-108339280)x1 -1 - 5 108021878 108339280 na na 157522 copy number loss GRCh38/hg38 5q21.3(chr5:108021878-108339280)x1 -1 - 5 107385478 107702880 na na

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 5 107397314 rs7728371 G T rs7728371 3.57E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 G intron GWASdb_drug 5 107401451 rs11242661 C T rs11242661 1.00E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 C intron GWASdb_drug 5 107402223 rs10035292 C T rs10035292 4.22E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 T intron GWASdb_drug 5 107410205 rs286794 G T rs286794 5.80E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_drug 5 107412941 rs158415 C T rs158415 9.32E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_drug 5 107504326 rs10063866 T C rs10063866 5.34E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 C intron GWASdb_drug 5 107511609 rs6883082 T C rs6883082 4.82E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 T intron GWASdb_drug 5 107512145 rs6596770 C T rs6596770 4.60E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 C intron GWASdb_drug 5 107512536 rs6596771 G A rs6596771 4.54E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 G intron GWASdb_drug 5 107513703 rs10463586 T G rs10463586 3.66E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 T intron GWASdb_drug 5 107514366 rs7713705 G C rs7713705 5.42E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 G intron GWASdb_drug 5 107521134 rs286767 T C rs286767 6.53E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 G intron GWASdb_drug 5 107561614 rs2122158 T C rs2122158 9.19E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 T intron GWASdb_drug 5 107196976 rs1865015 G A rs1865015 3.10E-05 Insulin Resistance HPOID:0000855 DOID:9352 C UTR-3 GWASdb_trait 5 107199977 rs11740286 T C rs11740286 2.30E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 5 107202929 rs6596759 C A rs6596759 3.10E-05 Insulin Resistance HPOID:0000855 DOID:9352 C intron GWASdb_trait 5 107205182 rs7708343 G A rs7708343 9.75E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 5 107233155 rs7726739 C G rs7726739 7.30E-07 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 5 107233791 rs10069340 G A rs10069340 9.76E-04 Alcohol dependence HPOID:0000707 DOID:0050741 G,A intron GWASdb_trait 5 107263580 rs11743737 T C rs11743737 8.77E-05 Coronary heart disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 5 107274258 rs7719403 C T rs7719403 1.32E-04 Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 5 107281621 rs10070308 C T rs10070308 4.00E-06 Bipolar disorder (body mass index interaction) HPOID:0007302 DOID:3312 T intron GWASdb_trait 5 107282348 rs72795979 T C rs72795979 3.00E-06 Bipolar disorder (body mass index interaction) HPOID:0007302 DOID:3312 C intron GWASdb_trait 5 107282349 rs72795980 C T rs72795980 2.00E-06 Bipolar disorder (body mass index interaction) HPOID:0007302 DOID:3312 T intron GWASdb_trait 5 107300655 rs885624 T C rs885624 5.19E-04 Nicotine dependence HPOID:0000707 DOID:0050742 A intron GWASdb_trait 5 107310203 rs11744308 A T rs11744308 6.69E-04 Nicotine dependence HPOID:0000707 DOID:0050742 A intron GWASdb_trait 5 107320230 rs10793832 T C rs10793832 8.13E-05 Nicotine dependence HPOID:0000707 DOID:0050742 T intron GWASdb_trait 5 107320882 rs13157529 G T rs13157529 5.00E-05 Response to lithium treatment in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 5 107323866 rs12514413 T C rs12514413 4.30E-04 Nicotine dependence HPOID:0000707 DOID:0050742 T intron GWASdb_trait 5 107348043 rs723397 C T rs723397 3.00E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 107395234 rs288144 G T rs288144 7.79E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 107397314 rs7728371 G T rs7728371 3.57E-06 Response to amphetamines HPOID:0000707 DOID:670 G intron GWASdb_trait 5 107400505 rs288139 G A rs288139 1.00E-06 Eye color HPOID:0000478 DOID:240 C intron GWASdb_trait 5 107401451 rs11242661 C T rs11242661 1.00E-06 Response to amphetamines HPOID:0000707 DOID:670 C intron GWASdb_trait 5 107402223 rs10035292 C T rs10035292 4.22E-06 Response to amphetamines HPOID:0000707 DOID:670 T intron GWASdb_trait 5 107402938 rs286751 C T rs286751 2.10E-05 Electrocardiographic traits and heart rate variability HPOID:0003115|HPOID:0011675 DOID:10273 A intron GWASdb_trait 5 107405476 rs289227 C G rs289227 6.71E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 5 107410205 rs286794 G T rs286794 5.80E-06 Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_trait 5 107412941 rs158415 C T rs158415 9.32E-06 Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_trait 5 107417744 rs11242662 T A rs11242662 1.50E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 5 107447121 rs40062 G A rs40062 8.35E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 5 107458637 rs286809 G A rs286809 5.28E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 107459529 rs12652687 T C rs12652687 7.76E-05 Body Mass Index HPOID:0001507 DOID:9970 T intron GWASdb_trait 5 107466006 rs34430 A C rs34430 8.43E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 5 107467243 rs40072 T A rs40072 9.49E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 5 107482854 rs286797 C T rs286797 4.70E-04 Statin-induced myopathy HPOID:0001637 DOID:0080000 A intron GWASdb_trait 5 107485161 rs12515105 C A rs12515105 5.55E-05 Orofacial clefts HPOID:0000202 DOID:0050567 C intron GWASdb_trait 5 107500144 rs34424 T C rs34424 6.71E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 5 107504326 rs10063866 T C rs10063866 5.34E-06 Response to amphetamines HPOID:0000707 DOID:670 C intron GWASdb_trait 5 107511609 rs6883082 T C rs6883082 4.82E-06 Response to amphetamines HPOID:0000707 DOID:670 T intron GWASdb_trait 5 107512145 rs6596770 C T rs6596770 4.60E-06 Response to amphetamines HPOID:0000707 DOID:670 C intron GWASdb_trait 5 107512536 rs6596771 G A rs6596771 4.54E-06 Response to amphetamines HPOID:0000707 DOID:670 G intron GWASdb_trait 5 107513703 rs10463586 T G rs10463586 3.66E-06 Response to amphetamines HPOID:0000707 DOID:670 T intron GWASdb_trait 5 107514366 rs7713705 G C rs7713705 5.42E-06 Response to amphetamines HPOID:0000707 DOID:670 G intron GWASdb_trait 5 107521134 rs286767 T C rs286767 6.53E-06 Response to amphetamines HPOID:0000707 DOID:670 G intron GWASdb_trait 5 107531302 rs286763 T C rs286763 2.68E-06 Statin-induced myopathy HPOID:0001637 DOID:0080000 G intron GWASdb_trait 5 107534886 rs2966821 A C rs2966821 2.64E-04 Statin-induced myopathy HPOID:0001637 DOID:0080000 G intron GWASdb_trait 5 107557861 rs13187816 T C rs13187816 2.53E-05 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 T intron GWASdb_trait 5 107561614 rs2122158 T C rs2122158 9.19E-06 Response to amphetamines HPOID:0000707 DOID:670 T intron GWASdb_trait 5 107630494 rs10045002 C A rs10045002 9.58E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 5 107671932 rs2966833 G A rs2966833 8.07E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 5 107676321 rs989001 G A rs989001 5.81E-04 Nicotine dependence HPOID:0000707 DOID:0050742 G intron GWASdb_trait 5 107684324 rs1862195 C T rs1862195 1.44E-05 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 T intron GWASdb_trait 5 107684324 rs1862195 C T rs1862195 8.96E-05 Cholesterol HPOID:0003107 DOID:2349|DOID:3393|DOID:3146 T intron GWASdb_trait 5 107687616 rs12521975 A T rs12521975 9.07E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000145743.15 FBXL17 609083