Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 154626 copy number gain GRCh38/hg38 4q35.1(chr4:185717485-185738139)x3 -1 - 4 186638639 186659293 na na 154626 copy number gain GRCh38/hg38 4q35.1(chr4:185717485-185738139)x3 -1 - 4 185717485 185738139 na na 154626 copy number gain GRCh38/hg38 4q35.1(chr4:185717485-185738139)x3 -1 - 4 186875633 186896287 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 4 186581859 rs4241809 C T rs4241809 1.10E-06 TESTOSTERONE LIN-28 PROTEIN, HUMAN|BIOLOGICAL MARKERS|RNA-BINDING PROTEINS Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 T intron GWASdb_drug 4 186716984 rs10021308 G A rs10021308 1 ETOPOSIDE XANTHENES|ANTINEOPLASTIC AGENTS, PHYTOGENIC|RESAZURIN|OXAZINES Drug response to Etoposide NA NA A intron GWASdb_drug 4 186522953 rs6818789 C T rs6818789 6.91E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 4 186526185 rs2101307 T C rs2101307 1.00E-04 Information processing speed HPOID:0100753|HPOID:0000716 DOID:1561 G intron GWASdb_trait 4 186529468 rs12503636 G A rs12503636 1.07E-05 Cognitive test performance HPOID:0100543 DOID:1561 G intron GWASdb_trait 4 186529468 rs12503636 G A rs12503636 2.75E-04 Lung function (forced expiratory volume in 1 second to forced vital capacity ratio) HPOID:0002088 DOID:850 G intron GWASdb_trait 4 186535247 rs12502295 A G rs12502295 6.59E-06 Coronary heart disease HPOID:0001677 DOID:3393 A intron GWASdb_trait 4 186537232 rs13144235 C T rs13144235 2.42E-06 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 4 186551624 rs1471794 T G rs1471794 8.36E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 4 186559109 rs2306707 T C rs2306707 9.78E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 4 186562877 rs3749579 G A rs3749579 9.63E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 4 186570855 rs7663827 C A rs7663827 4.03E-05 Odorant perception HPOID:0000366 DOID:0050155 A intron GWASdb_trait 4 186571441 rs6821894 C T rs6821894 9.20E-05 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 T intron GWASdb_trait 4 186581859 rs4241809 C T rs4241809 1.10E-06 Digit length ratio HPOID:0000818 DOID:12849|DOID:1094|DOID:15|DOID:9970|DOID:9352|DOID:1287 T intron GWASdb_trait 4 186610123 rs13150700 T C rs13150700 0.000277 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 4 186612675 rs4376189 G A rs4376189 2.00E-06 Visceral adipose tissue/subcutaneous adipose tissue ratio HPOID:0009124 DOID:9970 A intron GWASdb_trait 4 186636805 rs6825669 C T rs6825669 5.60E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 4 186636931 rs6826210 G A rs6826210 9.30E-06 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 4 186650131 rs10014995 C A rs10014995 1.31E-04 Telomere length HPOID:0000118 NA C intron GWASdb_trait 4 186658094 rs2276911 C T rs2276911 3.22E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 C intron GWASdb_trait 4 186671479 rs2173479 T C rs2173479 2.63E-04 IgE levels HPOID:0010701 DOID:6024 G intron GWASdb_trait 4 186672603 rs11132344 A T rs11132344 8.58E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 4 186672603 rs11132344 A T rs11132344 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 4 186692629 rs7655720 C T rs7655720 7.49E-04 Myocardial Infarction HPOID:0001658 DOID:5844 T intron GWASdb_trait 4 186695208 rs4487396 C T rs4487396 2.76E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin) HPOID:0001875|HPOID:0001882 DOID:1227 C intron GWASdb_trait 4 186716984 rs10021308 G A rs10021308 1 Drug response to Etoposide NA NA A intron GWASdb_trait 4 186725449 rs11132350 G T rs11132350 3.09E-05 Diabetes Mellitus HPOID:0000819 DOID:9351 T intron GWASdb_trait 4 186732566 rs1566347 T C rs1566347 9.15E-07 Osteoarthritis HPOID:0002758 DOID:8398 C intron GWASdb_trait 4 186743257 rs12504307 C G rs12504307 4.35E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 4 186759155 rs1499012 G A rs1499012 9.12E-04 Coronary heart disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 4 186776769 rs1027524 A C rs1027524 9.32E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 4 186790909 rs11940126 G A rs11940126 0.000057 Otitis media (children 3 years old or younger) HPOID:0000388 DOID:10754 G intron GWASdb_trait 4 186808581 rs13110782 G A rs13110782 8.48E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 4 186809714 rs4862585 C T rs4862585 5.90E-05 Asthma HPOID:0002099 DOID:2841 T intron GWASdb_trait 4 186838212 rs200740524 C CT rs7672034 4.12E-05 Bladder cancer HPOID:0002862 DOID:4007 T intron GWASdb_trait 4 186838212 rs7672034 C T rs7672034 4.12E-05 Bladder cancer HPOID:0002862 DOID:4007 T intron GWASdb_trait 4 186853014 rs4862600 C T rs4862600 1.00E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000154556.17 SORBS2 616349