Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171493 single nucleotide variant NM_001034954.1(SORBS1):c.3140G>C (p.Arg1047Pro) 193920900 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 10 95337020 95337020 C G 171493 single nucleotide variant NM_001034954.1(SORBS1):c.3140G>C (p.Arg1047Pro) 193920900 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 10 97096777 97096777 C G

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 10 97295589 rs12772243 A G rs12772243 5.00E-06 IMMUNOGLOBULIN G GLYCOSYLTRANSFERASES IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 A intron GWASdb_drug 10 97295922 rs1536442 T G rs1536442 7.55E-04 ATORVASTATIN SERINE ENDOPEPTIDASES|PYRROLES|PCSK9 PROTEIN, HUMAN|HEPTANOIC ACIDS|APOLIPOPROTEINS E|PROPROTEIN CONVERTASES Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 T intron GWASdb_drug 10 97301004 rs11188352 T G rs11188352 3.00E-06 IMMUNOGLOBULIN G GLYCOSYLTRANSFERASES IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 T intron GWASdb_drug 10 97301004 rs11188352 T G rs11188352 5.00E-06 IMMUNOGLOBULIN G GLYCOSYLTRANSFERASES IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 T intron GWASdb_drug 10 97301004 rs11188352 T G rs11188352 6.00E-06 IMMUNOGLOBULIN G GLYCOSYLTRANSFERASES IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 T intron GWASdb_drug 10 97072008 rs3193970 T C rs3193970 1.00E-04 Sudden cardiac arrest HPOID:0001645 DOID:3393 A UTR-3 GWASdb_trait 10 97086375 rs4542335 C G rs4542335 5.59E-05 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 10 97109019 rs10882583 A G rs10882583 3.56E-05 Obsessive-compulsive disorder HPOID:0000722 DOID:10933 A intron GWASdb_trait 10 97110879 rs6583995 C T rs6583995 1.22E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 10 97110879 rs6583995 C T rs6583995 5.62E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 10 97116219 rs7076888 C T rs7076888 6.08E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 10 97116219 rs7076888 C T rs7076888 8.62E-06 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 10 97119049 rs7900095 T C rs7900095 2.05E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 10 97119049 rs7900095 T C rs7900095 5.58E-06 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 10 97119593 rs7079293 T C rs7079293 2.05E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 10 97119593 rs7079293 T C rs7079293 6.19E-06 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 10 97122241 rs4918918 T C rs4918918 1.49E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 10 97122241 rs4918918 T C rs4918918 3.28E-06 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 10 97122377 rs4917686 T C rs4917686 5.70E-06 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 97123885 rs955760 G A rs955760 3.63E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 10 97123885 rs955760 G A rs955760 4.87E-06 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 10 97127264 rs6583997 T C rs6583997 5.04E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 10 97130450 rs12269572 T C rs12269572 0.0005 Normoxic and mild-hypoxic adaptation in populations residing at low and moderate altitudes HPOID:0002795 DOID:2841|DOID:3083 T intron GWASdb_trait 10 97196978 rs2274491 T A rs2274491 7.00E-06 Migraine - clinic-based HPOID:0002076 DOID:6364 A intron GWASdb_trait 10 97196978 rs2274491 T A rs2274491 7.88E-04 Migraine with aura HPOID:0002077 DOID:10024 A intron GWASdb_trait 10 97210983 rs11592098 G A rs11592098 2.67E-05 Coronary heart disease HPOID:0001677 DOID:3393 G intron GWASdb_trait 10 97217591 rs10882599 T A rs10882599 2.97E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 10 97218911 rs7089696 G A rs7089696 2.59E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 10 97220990 rs2148893 C A rs2148893 2.33E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 10 97229762 rs579342 G A rs579342 4.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 C intron GWASdb_trait 10 97232268 rs1536558 G T rs1536558 4.77E-05 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 10 97232268 rs1536558 G T rs1536558 4.80E-05 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 10 97239708 rs7071071 A G rs7071071 4.50E-06 Diabetic nephropathy HPOID:0000819|HPOID:0000112 DOID:783|DOID:9352 G intron GWASdb_trait 10 97251762 rs12247897 C T rs12247897 9.74E-06 Obesity-related traits HPOID:0001513 DOID:9970 C intron GWASdb_trait 10 97260564 rs1536447 A G rs1536447 1.40E-04 Type 2 diabetes and 6 quantitative traits HPOID:0005978 DOID:9352 G intron GWASdb_trait 10 97266574 rs11188337 G A rs11188337 2.64E-04 Smoking initiation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 10 97269933 rs12776562 C A rs12776562 7.98E-06 Leukocyte Counts HPOID:0001909 DOID:1240|DOID:0060058|DOID:1287 C intron GWASdb_trait 10 97272372 rs17110879 G A rs17110879 8.96E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 10 97274838 rs10882607 A C rs10882607 8.83E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 10 97278123 rs943347 T C rs943347 8.87E-05 Cognitive test performance HPOID:0100543 DOID:1561 T intron GWASdb_trait 10 97283567 rs17110913 C T rs17110913 5.76E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 10 97284081 rs1326934 C T rs1326934 6.21E-05 Leukocyte Counts HPOID:0001909 DOID:1240|DOID:0060058|DOID:1287 C intron GWASdb_trait 10 97284081 rs1326934 C T rs1326934 8.97E-05 Platelet counts HPOID:0011873 DOID:74|DOID:526|DOID:3393 C intron GWASdb_trait 10 97289992 rs11188346 G A rs11188346 2.83E-05 Leukocyte Counts HPOID:0001909 DOID:1240|DOID:0060058|DOID:1287 G intron GWASdb_trait 10 97294813 rs10882611 G A rs10882611 1.31E-05 Leukocyte Counts HPOID:0001909 DOID:1240|DOID:0060058|DOID:1287 G intron GWASdb_trait 10 97295395 rs10882612 T C rs10882612 8.24E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 10 97295589 rs12772243 A G rs12772243 5.00E-06 IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 A intron GWASdb_trait 10 97295922 rs1536442 T G rs1536442 7.55E-04 Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 T intron GWASdb_trait 10 97296254 rs17458865 G A rs17458865 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 10 97301004 rs11188352 T G rs11188352 3.00E-06 IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 T intron GWASdb_trait 10 97301004 rs11188352 T G rs11188352 5.00E-06 IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 T intron GWASdb_trait 10 97301004 rs11188352 T G rs11188352 6.00E-06 IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 T intron GWASdb_trait 10 97309704 rs11188356 G A rs11188356 1.25E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000095637.21 SORBS1 605264