Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 161181 copy number gain GRCh38/hg38 2q34(chr2:214022722-214055178)x3 -1 - 2 214887446 214919902 na na 161181 copy number gain GRCh38/hg38 2q34(chr2:214022722-214055178)x3 -1 - 2 214022722 214055178 na na 161181 copy number gain GRCh38/hg38 2q34(chr2:214022722-214055178)x3 -1 - 2 214595691 214628147 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 2 214426720 rs12466426 G A rs12466426 6.55E-05 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_drug 2 214462816 rs1400015 T G rs1400015 5.53E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_drug 2 214956523 rs2080776 C T rs2080776 9.03E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_drug 2 214966973 rs10514628 G C rs10514628 5.10E-05 CISPLATIN|CARBOPLATIN NAG PROTEIN, HUMAN|ORGANOPLATINUM COMPOUNDS|NEOPLASM PROTEINS Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 C intron GWASdb_drug 2 214969001 rs4541202 C T rs4541202 5.04E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_drug 2 215018724 rs16851532 A C rs16851532 4.37E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_drug 2 215024392 rs16851554 T G rs16851554 2.46E-05 ACETAMINOPHEN|GLUTATHIONE N-ACETYL-4-BENZOQUINONEIMINE|RNA, MESSENGER|IMINES|BENZOQUINONES Response to acetaminophen (hepatotoxicity) HPOID:0001392 DOID:409 T intron GWASdb_drug 2 215052524 rs11887857 G A rs11887857 1.21E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_drug 2 215179277 rs6731110 C A rs6731110 4.64E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_drug 2 215181488 rs1912169 T G rs1912169 1.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 2 215194668 rs1912185 T G rs1912185 4.81E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_drug 2 215243815 rs4673821 T C rs4673821 4.45E-04 RISPERIDONE ANTIPSYCHOTIC AGENTS Schizophrenia(treatment response to risperidone) HPOID:0100753 DOID:5419 T intron GWASdb_drug 2 214151720 rs13428264 G A rs13428264 2.90E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214153802 rs17298252 G T rs17298252 2.80E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214154634 rs13401350 T C rs13401350 3.30E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214154726 rs9653340 C T rs9653340 2.90E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214158151 rs1488987 A G rs1488987 2.70E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214161773 rs975956 C T rs975956 2.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214161849 rs1488988 C T rs1488988 2.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214162730 rs1219987 T G rs1219987 3.78E-13 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 2 214169642 rs13422754 C T rs13422754 2.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214170625 rs11695933 A T rs11695933 2.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214171778 rs10203794 T C rs10203794 2.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214173451 rs2371890 G A rs2371890 2.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214173563 rs13389980 A G rs13389980 2.30E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214173587 rs13418276 G A rs13418276 2.20E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214174298 rs11678617 A G rs11678617 2.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214174519 rs7425349 C T rs7425349 2.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214174767 rs10498003 C T rs10498003 2.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214175270 rs10498004 C T rs10498004 2.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214176980 rs766258 G A rs766258 2.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214180831 rs13424627 G A rs13424627 2.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214182321 rs1043646 T G rs1043646 2.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T UTR-3 GWASdb_trait 2 214183098 rs10210603 C A rs10210603 2.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214183769 rs13384459 G A rs13384459 3.60E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214185900 rs11677851 C T rs11677851 1.00E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214189591 rs1012556 C A rs1012556 1.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214192212 rs10206666 C T rs10206666 1.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214197366 rs13395064 G A rs13395064 1.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214197488 rs13395079 C G rs13395079 1.10E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214204084 rs13400851 G T rs13400851 1.20E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214208290 rs11688212 C A rs11688212 4.00E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214221925 rs7355430 G A rs7355430 4.20E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214222167 rs7355432 C T rs7355432 4.20E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214225606 rs10172140 C T rs10172140 4.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214227945 rs1488982 A G rs1488982 4.30E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214228020 rs1488981 T C rs1488981 4.30E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214231045 rs7589864 G T rs7589864 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214234050 rs13414104 T C rs13414104 4.30E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214237404 rs13411979 G A rs13411979 4.20E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214237420 rs13411988 G T rs13411988 4.20E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214238530 rs4672679 G A rs4672679 4.20E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214241939 rs1387209 G A rs1387209 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214242433 rs10191191 G A rs10191191 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214244304 rs1844227 A G rs1844227 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214246268 rs11692490 G A rs11692490 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214247115 rs11682739 A G rs11682739 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214248686 rs1488978 G A rs1488978 3.40E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214255693 rs2130056 T A rs2130056 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214256618 rs17750222 T G rs17750222 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214258901 rs11682093 C T rs11682093 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214269693 rs11690986 C T rs11690986 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214269942 rs17694142 A G rs17694142 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A,G intron GWASdb_trait 2 214270027 rs11691151 C T rs11691151 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 2 214271199 rs2634482 A G rs2634482 4.50E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 C intron GWASdb_trait 2 214280525 rs16850304 A G rs16850304 4.60E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214280634 rs17750805 T G rs17750805 4.60E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214282132 rs2035694 T A rs2035694 4.60E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 A intron GWASdb_trait 2 214284096 rs17750895 G A rs17750895 4.70E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 G intron GWASdb_trait 2 214392651 rs13390905 T C rs13390905 5.03E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 2 214426720 rs12466426 G A rs12466426 6.55E-05 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_trait 2 214462816 rs1400015 T G rs1400015 5.53E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_trait 2 214483528 rs11683006 A C rs11683006 1.11E-05 Fasting insulin (interaction) HPOID:0008283 DOID:9352 A intron GWASdb_trait 2 214483528 rs11683006 A C rs11683006 2.03E-05 Homeostasis model assessment of insulin resistance (interaction) HPOID:0005978 DOID:9352 A intron GWASdb_trait 2 214527841 rs1515915 G A rs1515915 8.39E-04 White matter integrity HPOID:0002500 DOID:3312|DOID:936 C intron GWASdb_trait 2 214531723 rs2013922 C T rs2013922 6.23E-06 Fasting insulin (interaction) HPOID:0008283 DOID:9352 A intron GWASdb_trait 2 214535540 rs1028137 C G rs1028137 3.43E-06 Fasting insulin (interaction) HPOID:0008283 DOID:9352 G intron GWASdb_trait 2 214535540 rs1028137 C G rs1028137 7.33E-06 Homeostasis model assessment of insulin resistance (interaction) HPOID:0005978 DOID:9352 G intron GWASdb_trait 2 214548537 rs6707387 G A rs6707387 1.00E-06 Homeostasis model assessment of insulin resistance (interaction) HPOID:0005978 DOID:9352 G intron GWASdb_trait 2 214548537 rs6707387 G A rs6707387 6.00E-07 Fasting insulin (interaction) HPOID:0008283 DOID:9352 G intron GWASdb_trait 2 214575924 rs10165804 T G rs10165804 1.11E-05 Fasting insulin (interaction) HPOID:0008283 DOID:9352 T intron GWASdb_trait 2 214575924 rs10165804 T G rs10165804 1.98E-05 Homeostasis model assessment of insulin resistance (interaction) HPOID:0005978 DOID:9352 T intron GWASdb_trait 2 214592382 rs7597928 A G rs7597928 1.44E-04 Alcohol dependence HPOID:0000707 DOID:0050741 A intron GWASdb_trait 2 214635332 rs2457183 G C rs2457183 3.70E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 2 214639706 rs2662683 T A rs2662683 3.01E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 2 214672291 rs11893486 C A rs11893486 1.12E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 2 214678340 rs6705746 G A rs6705746 2.42E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 2 214683214 rs1582839 G A rs1582839 7.21E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 2 214700768 rs10932501 C A rs10932501 2.60E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 2 214713451 rs11674163 A C rs11674163 3.35E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 2 214714975 rs4503943 G A rs4503943 2.01E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 2 214717579 rs10498015 C A rs10498015 1.19E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 2 214726239 rs10179905 T A rs10179905 2.11E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 2 214727997 rs2662676 G T rs2662676 1.31E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 2 214789988 rs16851125 C T rs16851125 6.61E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 2 214802528 rs4427965 C T rs4427965 3.59E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 2 214803693 rs11678221 A T rs11678221 6.89E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 2 214838513 rs9789347 G T rs9789347 8.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 G intron GWASdb_trait 2 214861233 rs10498012 C T rs10498012 1.80E-06 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 2 214862848 rs4673801 G A rs4673801 1.90E-06 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 2 214867132 rs1397351 A G rs1397351 5.16E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 G intron GWASdb_trait 2 214904957 rs71428314 G T rs71428314 2.37E-06 Contrast sensitivity HPOID:0100753|HPOID:0000729 DOID:0060041|DOID:5419 G intron GWASdb_trait 2 214907853 rs9288484 C G rs9288484 4.07E-06 Contrast sensitivity HPOID:0100753|HPOID:0000729 DOID:0060041|DOID:5419 G intron GWASdb_trait 2 214907914 rs737690 T C rs737690 4.07E-06 Contrast sensitivity HPOID:0100753|HPOID:0000729 DOID:0060041|DOID:5419 C intron GWASdb_trait 2 214914721 rs17207375 C T rs17207375 2.22E-06 Contrast sensitivity HPOID:0100753|HPOID:0000729 DOID:0060041|DOID:5419 C intron GWASdb_trait 2 214917402 rs1510552 A C rs1510552 1.00E-06 Contrast sensitivity HPOID:0100753|HPOID:0000729 DOID:0060041|DOID:5419 G intron GWASdb_trait 2 214932580 rs2058991 A G rs2058991 1.37E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 A intron GWASdb_trait 2 214940734 rs6715771 T C rs6715771 2.02E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) HPOID:0001875|HPOID:0001882 DOID:1227 T intron GWASdb_trait 2 214940734 rs6715771 T C rs6715771 6.46E-06 Contrast sensitivity HPOID:0100753|HPOID:0000729 DOID:0060041|DOID:5419 T intron GWASdb_trait 2 214956523 rs2080776 C T rs2080776 9.03E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_trait 2 214966973 rs10514628 G C rs10514628 5.10E-05 Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 C intron GWASdb_trait 2 214969001 rs4541202 C T rs4541202 5.04E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_trait 2 214993997 rs2161022 G A rs2161022 1.46E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 2 215009358 rs7597126 T C rs7597126 5.12E-05 Blood Pressure HPOID:0011025 DOID:10763 T intron GWASdb_trait 2 215009358 rs7597126 T C rs7597126 4.35E-05 Blood Pressure HPOID:0011025 DOID:10763 T intron GWASdb_trait 2 215018724 rs16851532 A C rs16851532 4.37E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_trait 2 215024392 rs16851554 T G rs16851554 2.46E-05 Response to acetaminophen (hepatotoxicity) HPOID:0001392 DOID:409 T intron GWASdb_trait 2 215034435 rs2372227 C A rs2372227 5.34E-04 Stroke HPOID:0001297 DOID:6713 T intron GWASdb_trait 2 215046533 rs2161082 A G rs2161082 4.07E-05 Cytomegalovirus antibody response HPOID:0004377 DOID:10533 A intron GWASdb_trait 2 215048212 rs10190431 T C rs10190431 1.66E-05 Cytomegalovirus antibody response HPOID:0004377 DOID:10533 C intron GWASdb_trait 2 215050520 rs1912196 G T rs1912196 6.23E-05 Cognitive test performance HPOID:0100543 DOID:1561 G intron GWASdb_trait 2 215052524 rs11887857 G A rs11887857 1.21E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_trait 2 215061093 rs12617276 G T rs12617276 6.80E-05 Cytomegalovirus antibody response HPOID:0004377 DOID:10533 G intron GWASdb_trait 2 215081910 rs16851611 C T rs16851611 4.03E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 2 215121966 rs13404035 T C rs13404035 2.00E-05 Melanoma HPOID:0002861 DOID:8923 T intron GWASdb_trait 2 215144720 rs10932529 G A rs10932529 2.02E-04 Myocardial Infarction HPOID:0001658 DOID:5844 G intron GWASdb_trait 2 215179277 rs6731110 C A rs6731110 4.64E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_trait 2 215179277 rs6731110 C A rs6731110 9.24E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (doxorubicin) HPOID:0001875|HPOID:0001882 DOID:1227 C intron GWASdb_trait 2 215181488 rs1912169 T G rs1912169 1.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 2 215182877 rs2216544 G A rs2216544 6.29E-04 Myocardial Infarction HPOID:0001658 DOID:5844 A intron GWASdb_trait 2 215188619 rs16851771 A G rs16851771 2.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 A intron GWASdb_trait 2 215194668 rs1912185 T G rs1912185 4.81E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_trait 2 215243815 rs4673821 T C rs4673821 4.45E-04 Schizophrenia(treatment response to risperidone) HPOID:0100753 DOID:5419 T intron GWASdb_trait 2 215264826 rs4286276 T C rs4286276 5.11E-04 Tourette syndrome HPOID:0000709 DOID:11119|DOID:10933|DOID:1094 T intron 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 rs6435770 2 214214297 214214297 intronic 0.991185 0.00384527893477842 GWAS of prostate cancer rs10932481 2 214280050 214280050 intronic 0.990541 0.00412754364361414 GWAS of prostate cancer rs7580474 2 214163584 214163584 intronic 0.990264 0.00424900897944616 GWAS of prostate cancer rs4374321 2 215003311 215003311 intronic 0.979457 0.00901462559333079 GWAS of prostate cancer rs12472571 2 214567789 214567789 intronic 0.969221 0.0135771846239698 GWAS of prostate cancer rs7607479 2 214543584 214543584 intronic 0.957833 0.018710204387777 GWAS of prostate cancer rs1912209 2 215135270 215135270 intronic 0.940198 0.0267806769830009 GWAS of prostate cancer rs17701917 2 214439806 214439806 intronic 0.929146 0.0319160384149544 GWAS of prostate cancer rs12694318 2 215000915 215000915 intronic 0.910334 0.0407992365320911 GWAS of prostate cancer rs1400015 2 214462816 214462816 intronic 0.906261 0.0427467090164718 GWAS of prostate cancer rs2216544 2 215182877 215182877 intronic 0.905538 0.0430933202322668 GWAS of prostate cancer rs13400851 2 214204084 214204084 intronic 0.871442 0.0597615126482834 GWAS of prostate cancer rs339815 2 214261534 214261534 intronic 0.835147 0.07823707461228209 GWAS of prostate cancer rs1912196 2 215050520 215050520 intronic 0.822215 0.08501460447393021 GWAS of prostate cancer rs11687649 2 214933509 214933509 intronic 0.802325 0.0956496752125728 GWAS of prostate cancer rs1515915 2 214527841 214527841 intronic 0.746858 0.126761962680846 GWAS of prostate cancer rs2372227 2 215034435 215034435 intronic 0.74146 0.129912273155964 GWAS of prostate cancer rs1582839 2 214683214 214683214 intronic 0.727689 0.13805418997535698 GWAS of prostate cancer rs4673748 2 214469961 214469961 intronic 0.719302 0.14308873215332701 GWAS of prostate cancer rs1912190 2 215218657 215218657 intronic 0.716916 0.144531727001089 GWAS of prostate cancer rs1588455 2 214791897 214791897 intronic 0.700879 0.154356952315999 GWAS of prostate cancer rs1033067 2 214765093 214765093 intronic 0.700085 0.154849227428781 GWAS of prostate cancer rs13007666 2 215077380 215077380 intronic 0.67697 0.169430576696155 GWAS of prostate cancer rs9288485 2 214908292 214908292 intronic 0.66231 0.178938687634627 GWAS of prostate cancer rs16851532 2 215018724 215018724 intronic 0.651825 0.185868986684876 GWAS of prostate cancer rs4673792 2 214787054 214787054 intronic 0.644866 0.19053052025856498 GWAS of prostate cancer rs7584873 2 214520087 214520087 intronic 0.630087 0.200599480687217 GWAS of prostate cancer rs12617276 2 215061093 215061093 intronic 0.628961 0.201376283028348 GWAS of prostate cancer rs2042791 2 214727221 214727221 exonic 0.621126 0.206820291040724

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000144451.18 SPAG16 612173