Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 161082 copy number loss GRCh38/hg38 1p34.1(chr1:44514045-44535607)x1 -1 - 1 44979717 45001279 na na 161082 copy number loss GRCh38/hg38 1p34.1(chr1:44514045-44535607)x1 -1 - 1 44514045 44535607 na na 161082 copy number loss GRCh38/hg38 1p34.1(chr1:44514045-44535607)x1 -1 - 1 44752304 44773866 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 1 44976806 rs781790 A G rs781790 5.91E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 1 44912147 rs7555873 T C rs7555873 4.95E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 1 44921331 rs12071805 C G rs12071805 1.29E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 1 44951245 rs9804150 A G rs9804150 8.67E-05 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 A intron GWASdb_trait 1 44972309 rs781775 G A rs781775 3.82E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) HPOID:0001875|HPOID:0001882 DOID:1227 C intron GWASdb_trait 1 44972337 rs781774 G A rs781774 5.00E-06 Interleukin levels (IL10, IL1Ra, IL6), in plasma HPOID:0011117 DOID:2914 T intron GWASdb_trait 1 44974082 rs781771 T C rs781771 1.40E-06 Interleukin levels (IL10, IL1Ra, IL6), in plasma HPOID:0011117 DOID:2914 G intron GWASdb_trait 1 44974119 rs781770 C T rs781770 2.71E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) HPOID:0001875|HPOID:0001882 DOID:1227 G intron GWASdb_trait 1 44974796 rs12138940 A G rs12138940 2.50E-05 Anxiety in major depressive disorder HPOID:0000716 DOID:1470|DOID:2030 A intron GWASdb_trait 1 44976806 rs781790 A G rs781790 5.91E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 1 44976806 rs781790 A G rs781790 2.85E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) HPOID:0001875|HPOID:0001882 DOID:1227 A intron GWASdb_trait 1 44988433 rs272531 G A rs272531 3.66E-04 Schizophrenia HPOID:0100753 DOID:5419 G intron GWASdb_trait 1 44988433 rs272531 G A rs272531 6.68E-05 Insulin resistance HPOID:0000855 DOID:9352 G intron GWASdb_trait 1 44992714 rs272537 A T rs272537 5.40E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 1 44999614 rs746733 G A rs746733 3.55E-05 F-cell distribution HPOID:0008346 DOID:10923 C intron GWASdb_trait 1 45029679 rs7525212 G A,T rs7525212 3.92E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 1 45054866 rs270716 A G rs270716 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 1 45080932 rs459160 T C rs459160 1.73E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 1 45080932 rs459160 T C rs459160 8.20E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 1 45081101 rs461043 T C rs461043 1.56E-11 Multiple complex diseases HPOID:0000118 NA A,G intron GWASdb_trait 1 45116935 rs1051648 C T rs1051648 6.82E-05 Cognitive test performance HPOID:0100543 DOID:1561 T UTR-3 GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs272531 1 44988433 44988433 intronic 0.899555 0.0459722781591494 GWAS of prostate cancer rs781783 1 44951085 44951085 intronic 0.887497 0.0518331063130348 GWAS of prostate cancer rs11211012 1 45010745 45010745 intronic 0.862233 0.0643753595340416 GWAS of prostate cancer rs6429541 1 44965723 44965723 intronic 0.826424 0.0827970790535166 GWAS of prostate cancer rs11210998 1 44893331 44893331 intronic 0.808504 0.0923178271198183 GWAS of prostate cancer rs3866643 1 44885123 44885123 intronic 0.788844 0.103008873391052 GWAS of prostate cancer rs7525212 1 45029679 45029679 intronic 0.734835 0.133810166540334 GWAS of prostate cancer rs12405914 1 44871575 44871575 intronic 0.724032 0.14024223889083 GWAS of prostate cancer rs459160 1 45080932 45080932 intronic 0.716465 0.14480502044896099 GWAS of prostate cancer rs755597 1 45033371 45033371 intronic 0.699596 0.155152682302129 GWAS of prostate cancer rs1890948 1 44929865 44929865 intronic 0.665107 0.177108481356384 GWAS of prostate cancer rs11582493 1 45063606 45063606 intronic 0.649623 0.187338607233238 GWAS of prostate cancer rs3911861 1 45062453 45062453 intronic 0.575293 0.240110910312878 GWAS of prostate cancer rs69141 1 45039205 45039205 intronic 0.54421 0.26423348220911397 GWAS of prostate cancer rs272564 1 45012273 45012273 intronic 0.538657 0.268687692002001 GWAS of prostate cancer rs11210996 1 44887362 44887362 intronic 0.515768 0.287545606468212 GWAS of prostate cancer rs11582764 1 45076929 45076929 intronic 0.495426 0.305021205339542 GWAS of prostate cancer rs10493118 1 44887010 44887010 intronic 0.473718 0.32448011294535095 GWAS of prostate cancer rs2120823 1 44980081 44980081 intronic 0.436968 0.359550366078264 GWAS of prostate cancer rs6672462 1 44997314 44997314 intronic 0.430352 0.366176174371504 GWAS of prostate cancer rs4448554 1 44898998 44898998 intronic 0.358218 0.445852595191995 GWAS of prostate cancer rs166589 1 45017212 45017212 intronic 0.35446 0.450432766854461 GWAS of prostate cancer rs270765 1 45023415 45023415 intronic 0.34739 0.45918268734927303 GWAS of prostate cancer rs270716 1 45054866 45054866 intronic 0.329572 0.482049692490813 GWAS of prostate cancer rs12129788 1 45072074 45072074 intronic 0.303374 0.518021642205778 GWAS of prostate cancer rs10789450 1 45068727 45068727 intronic 0.268812 0.570551347904457 GWAS of prostate cancer rs946960 1 44926646 44926646 intronic 0.228324 0.6414484357732669 GWAS of prostate cancer rs270703 1 45060687 45060687 intronic 0.205494 0.6872008541038851 GWAS of prostate cancer rs4660806 1 44939696 44939696 intronic 0.196109 0.707502474865382 GWAS of prostate cancer rs270724 1 44991278 44991278 intronic 0.184256 0.734578361138031 GWAS of prostate cancer rs3866642 1 44885922 44885922 intronic 0.155978 0.806936652622323 GWAS of prostate cancer rs4660794 1 44879221 44879221 intronic 0.118706 0.9255273290568999 GWAS of prostate cancer rs1340649 1 44921384 44921384 intronic 0.06756 1.17031035910103 GWAS of prostate cancer rs4660809 1 44988477 44988477 intronic 0.053907 1.2683548365946398 GWAS of prostate cancer rs781790 1 44976806 44976806 intronic 0.031022 1.50833020649133 GWAS of prostate cancer rs1051648 1 45116935 45116935 UTR3 0.002358 2.62745619924093

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000187147.17 RNF220 616136