Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 31629 indel NM_001122742.1(ESR1):c.1339_1340delTGinsGC (p.Cys447Ala) 121913043 MedGen:C4016037 6 152382229 152382230 TG GC 31629 indel NM_001122742.1(ESR1):c.1339_1340delTGinsGC (p.Cys447Ala) 121913043 MedGen:C4016037 6 152061094 152061095 TG GC 31630 single nucleotide variant ESR1, 594G-A -1 - na -1 -1 na na 31631 single nucleotide variant NM_001122742.1(ESR1):c.469C>T (p.Arg157Ter) 104893956 MedGen:C1851467,OMIM:615363 6 152163748 152163748 C T 31631 single nucleotide variant NM_001122742.1(ESR1):c.469C>T (p.Arg157Ter) 104893956 MedGen:C1851467,OMIM:615363 6 151842613 151842613 C T 31632 single nucleotide variant NM_001122742.1(ESR1):c.1091T>A (p.Val364Glu) 121913044 MedGen:C1851467,OMIM:615363 6 152265638 152265638 T A 31632 single nucleotide variant NM_001122742.1(ESR1):c.1091T>A (p.Val364Glu) 121913044 MedGen:C1851467,OMIM:615363 6 151944503 151944503 T A 31633 single nucleotide variant ESR1, IVS1, T-C, -401 -1 MedGen:C1851473;MedGen:C1851468;MedGen:C0027051,SNOMED CT:C0027051 na -1 -1 na na 75131 single nucleotide variant NM_000125.3(ESR1):c.1125G>T (p.Gln375His) 397509428 MedGen:C1851467,OMIM:615363 6 152332819 152332819 G T 75131 single nucleotide variant NM_000125.3(ESR1):c.1125G>T (p.Gln375His) 397509428 MedGen:C1851467,OMIM:615363 6 152011684 152011684 G T 204580 single nucleotide variant NM_000125.3(ESR1):c.908A>G (p.Lys303Arg) 796065354 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 6 151944320 151944320 A G 204580 single nucleotide variant NM_000125.3(ESR1):c.908A>G (p.Lys303Arg) 796065354 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 6 152265455 152265455 A 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 6 152163381 rs9340799 A G rs9340799 1 TAMOXIFEN CYTOCHROME P-450 CYP2D6|ESTROGEN RECEPTOR ALPHA|LIPIDS|ESTROGEN RECEPTOR BETA Drug response to Tamoxifen NA NA A intron GWASdb_drug 6 152200430 rs9322336 C T rs9322336 2.66E-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 T intron GWASdb_drug 6 152229850 rs2347867 G A rs2347867 9.68E-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 A,G intron GWASdb_drug 6 152009638 rs2941740 A G rs2941740 2.00E-10 Bone mineral density (hip) HPOID:0004348 DOID:0080011 C nearGene-5 GWASdb_trait 6 152009638 rs2941740 A G rs2941740 0.000481 Breast cancer HPOID:0003002 DOID:1612 C nearGene-5 GWASdb_trait 6 152009638 rs2941740 A G rs2941740 0.00085 Breast cancer HPOID:0003002 DOID:1612 C nearGene-5 GWASdb_trait 6 152010254 rs3020333 A G rs3020333 2.90E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 G nearGene-5 GWASdb_trait 6 152010534 rs2982573 T C rs2982573 2.30E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A nearGene-5 GWASdb_trait 6 152010534 rs2982573 T C rs2982573 0.000479 Breast cancer HPOID:0003002 DOID:1612 A nearGene-5 GWASdb_trait 6 152010561 rs2982572 C T rs2982572 0.000476 Breast cancer HPOID:0003002 DOID:1612 G nearGene-5 GWASdb_trait 6 152012739 rs2982571 A T rs2982571 3.90E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152012739 rs2982571 A T rs2982571 0.000808 Breast cancer HPOID:0003002 DOID:1612 T intron GWASdb_trait 6 152012956 rs3020334 A G rs3020334 3.50E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152012956 rs3020334 A G rs3020334 0.000808 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152012988 rs2941742 A G rs2941742 0.000812 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152013223 rs3020335 G T rs3020335 3.30E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152013223 rs3020335 G T rs3020335 0.000806 Breast cancer HPOID:0003002 DOID:1612 T intron GWASdb_trait 6 152013748 rs2982570 C T rs2982570 3.10E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152013748 rs2982570 C T rs2982570 0.000869 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152013760 rs3020336 G T rs3020336 0.000832 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152017691 rs1293936 T G rs1293936 3.60E-08 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152017958 rs1293935 C G rs1293935 0.000562 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152020390 rs851985 A C,G,T rs851985 0.000054 Breast cancer HPOID:0003002 DOID:1612 T intron GWASdb_trait 6 152023191 rs851984 G A rs851984 0.000072 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152024415 rs851983 A G rs851983 0.000046 Breast cancer HPOID:0003002 DOID:1612 T intron GWASdb_trait 6 152024985 rs851982 T C rs851982 1.30E-08 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152024985 rs851982 T C rs851982 0.000089 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152027012 rs9383591 G C rs9383591 0.000011 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152027955 rs851980 T C rs851980 2.93E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 A intron GWASdb_trait 6 152035710 rs8180576 C A rs8180576 0.000015 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152040291 rs12525163 T C rs12525163 9.80E-06 Endometriosis HPOID:0000130 DOID:289 C intron GWASdb_trait 6 152040291 rs12525163 T C rs12525163 0.00087 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152048022 rs1159327 C T rs1159327 2.00E-05 Endometriosis HPOID:0000130 DOID:289 A intron GWASdb_trait 6 152051854 rs2982565 G A rs2982565 1.80E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 6 152052043 rs6899458 G A rs6899458 8.62E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 6 152052043 rs6899458 G A rs6899458 1.60E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 A intron GWASdb_trait 6 152052601 rs2982562 C T rs2982562 5.80E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 G intron GWASdb_trait 6 152052652 rs2982561 C T rs2982561 8.90E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 G intron GWASdb_trait 6 152054363 rs3020343 C T rs3020343 4.80E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152054363 rs3020343 C T rs3020343 9.60E-05 Endometriosis HPOID:0000130 DOID:289 C intron GWASdb_trait 6 152055606 rs2982560 A T rs2982560 4.30E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152056146 rs2982558 A G rs2982558 7.00E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152056369 rs201941147 G GA rs2982557 3.10E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152056369 rs2982557 G A rs2982557 3.10E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152056842 rs2982556 G A rs2982556 5.00E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152057914 rs3020348 C A rs3020348 2.00E-08 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152057914 rs3020348 C A rs3020348 7.50E-05 Endometriosis HPOID:0000130 DOID:289 A intron GWASdb_trait 6 152058010 rs2982554 A C rs2982554 4.80E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 G intron GWASdb_trait 6 152058268 rs3020349 C A rs3020349 5.50E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152058844 rs3020300 T A rs3020300 8.00E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152059563 rs2982552 G A rs2982552 1.50E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152059563 rs2982552 G A rs2982552 1.21E-04 Bone properties (heel) HPOID:0000939 DOID:11476 C intron GWASdb_trait 6 152059563 rs2982552 G A rs2982552 2.00E-10 Bone properties (heel) HPOID:0000939 DOID:11476 C intron GWASdb_trait 6 152059563 rs2982552 G A rs2982552 7.32E-16 Bone properties (heel) HPOID:0000939 DOID:11476 C intron GWASdb_trait 6 152061210 rs2982551 G T rs2982551 2.10E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152061210 rs2982551 G T rs2982551 0.000565 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152061474 rs2982550 G T rs2982550 0.000623 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152061579 rs3020301 T C rs3020301 2.00E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152061579 rs3020301 T C rs3020301 0.000569 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152063998 rs1415194 A G rs1415194 5.00E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152064199 rs1999807 C G rs1999807 5.20E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152064464 rs3020304 C T rs3020304 1.70E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152065886 rs3020306 C T rs3020306 4.80E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152067244 rs3020307 A C rs3020307 5.40E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152067500 rs9397445 T C rs9397445 0.000124 Breast cancer HPOID:0003002 DOID:1612 T intron GWASdb_trait 6 152067869 rs1856057 A G rs1856057 3.30E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152068364 rs1999805 G A rs1999805 2.00E-08 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152068364 rs1999805 G A rs1999805 3.90E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152068364 rs1999805 G A rs1999805 3.40E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152068364 rs1999805 G A rs1999805 0.00041 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152068685 rs3020308 A G rs3020308 3.70E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152069791 rs2982575 A G rs2982575 8.00E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152069791 rs2982575 A G rs2982575 0.000000046 Lumbar spine bone mineral density (premenopausal) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152069791 rs2982575 A G rs2982575 0.00036 Femoral neck bone mineral density (premenopausal) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152070145 rs2152750 T C rs2152750 3.20E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 G intron GWASdb_trait 6 152073318 rs9322330 G A rs9322330 0.000239 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152075487 rs2982567 G A rs2982567 2.90E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152077846 rs11155811 C T rs11155811 7.40E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152077895 rs11155812 C T rs11155812 0.000709 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152080665 rs4644077 A T rs4644077 0.000849 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152080735 rs1124674 T G rs1124674 1.00E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 C intron GWASdb_trait 6 152080832 rs60945108 C T rs60945108 3.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 C intron GWASdb_trait 6 152082369 rs1336981 C T rs1336981 1.00E-08 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152082646 rs9371551 G A rs9371551 0.000655 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152082646 rs9371551 G A rs9371551 6.45E-04 Smoking cessation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 6 152082681 rs73780860 T C rs73780860 3.09E-06 Obesity-related traits HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 152082973 rs9479107 T A rs9479107 0.000787 Breast cancer HPOID:0003002 DOID:1612 T intron GWASdb_trait 6 152084862 rs2504071 T C rs2504071 1.50E-10 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152085275 rs1890010 C T rs1890010 1.10E-08 Bone mineral density (spine) HPOID:0004348 DOID:0080011 G intron GWASdb_trait 6 152085517 rs2504069 C T rs2504069 1.10E-08 Bone mineral density (spine) HPOID:0004348 DOID:0080011 G,A intron GWASdb_trait 6 152087345 rs118028050 G A rs118028050 0.000075 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152090707 rs2504063 A G rs2504063 1.50E-08 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152090707 rs2504063 A G rs2504063 6.00E-11 Bone mineral density (spine) HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152090707 rs2504063 A G rs2504063 5.60E-08 Bone mineral density HPOID:0004348 DOID:0080011 A intron GWASdb_trait 6 152092638 rs1415193 T A rs1415193 3.50E-09 Bone mineral density (spine) HPOID:0004348 DOID:0080011 T intron GWASdb_trait 6 152095167 rs2504065 G A rs2504065 3.10E-07 Bone mineral density (spine) HPOID:0004348 DOID:0080011 G intron GWASdb_trait 6 152110943 rs543650 T G rs543650 1.00E-17 Height HPOID:0000002 NA C intron GWASdb_trait 6 152123593 rs79994281 C A rs79994281 0.000244 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152125444 rs488133 T C rs488133 1.20E-10 Height HPOID:0000002 NA C intron GWASdb_trait 6 152125444 rs488133 T C rs488133 1.50E-04 Height HPOID:0000002 NA C intron GWASdb_trait 6 152125444 rs488133 T C rs488133 3.40E-06 Height HPOID:0000002 NA C intron GWASdb_trait 6 152128631 rs867239 C G rs867239 0.000568 Breast cancer HPOID:0003002 DOID:1612 C UTR-5 GWASdb_trait 6 152129588 rs6914438 C T rs6914438 0.000213 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152130918 rs532010 A G rs532010 9.47E-05 Non-alcoholic fatty liver disease histology (other) HPOID:0001397|HPOID:0006561 DOID:9452 T intron GWASdb_trait 6 152131121 rs12660738 A G rs12660738 0.000356 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152131321 rs6920483 G A rs6920483 0.000625 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152133187 rs3778609 C T rs3778609 0.000158 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152133351 rs3778610 A G rs3778610 0.000514 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152137404 rs13362642 A G rs13362642 0.000664 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152140867 rs9479121 C T rs9479121 0.000739 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152140940 rs9479122 G A rs9479122 0.000704 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152141622 rs12523770 C T rs12523770 0.000266 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152141657 rs12523805 G T rs12523805 0.000702 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152145916 rs7771894 C T rs7771894 0.000142 Breast cancer HPOID:0003002 DOID:1612 T,C intron GWASdb_trait 6 152146580 rs9479126 T C rs9479126 0.000473 Breast cancer HPOID:0003002 DOID:1612 T intron GWASdb_trait 6 152148098 rs7753153 G A rs7753153 3.53E-05 Intelligence HPOID:0000118 DOID:1094|DOID:1561 A intron GWASdb_trait 6 152149667 rs17081740 T C rs17081740 2.27E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 6 152151196 rs12527007 A G rs12527007 0.000453 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 152153697 rs6909023 G A rs6909023 2.45E-05 vWF levels, in plasma HPOID:0012146|HPOID:0003125|HPOID:0004936 DOID:12531|DOID:12134|DOID:866 G intron GWASdb_trait 6 152153964 rs6937568 T C rs6937568 2.20E-05 vWF levels, in plasma HPOID:0012146|HPOID:0003125|HPOID:0004936 DOID:12531|DOID:12134|DOID:866 T intron GWASdb_trait 6 152155126 rs28457010 C T rs28457010 0.000456 Breast cancer HPOID:0003002 DOID:1612 C intron GWASdb_trait 6 152157881 rs6902771 C T rs6902771 8.00E-06 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 6 152160756 rs3853251 A G rs3853251 2.29E-04 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 6 152162317 rs9322331 C T rs9322331 2.01E-04 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 6 152163335 rs2234693 T C rs2234693 1.92E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 6 152163381 rs9340799 A G rs9340799 1 Drug response to Tamoxifen NA NA A intron GWASdb_trait 6 152163381 rs9340799 A G rs9340799 2.77E-04 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 6 152167311 rs3936674 G A rs3936674 2.07E-04 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 6 152200430 rs9322336 C T rs9322336 2.66E-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 T intron GWASdb_trait 6 152204210 rs11155820 A G rs11155820 7.13E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 6 152229850 rs2347867 G A rs2347867 3.14E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs) HPOID:0001875|HPOID:0001882 DOID:1227 A,G intron GWASdb_trait 6 152236879 rs9397453 G A rs9397453 1.53E-14 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 6 152271978 rs9340907 G T rs9340907 1.34E-08 LDL cholesterol HPOID:0010979 DOID:1936|DOID:3393 G intron GWASdb_trait 6 152271978 rs9340907 G T rs9340907 7.56E-08 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 G intron GWASdb_trait 6 152285687 rs2982694 G T rs2982694 7.00E-10 Sudden cardiac arrest HPOID:0001645 DOID:3393 T intron GWASdb_trait 6 152292606 rs9340922 A C rs9340922 5.87E-09 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 A intron GWASdb_trait 6 152295613 rs9383951 G C rs9383951 2.00E-06 Breast cancer HPOID:0003002 DOID:1612 G intron GWASdb_trait 6 152302212 rs7768330 A G rs7768330 5.34E-08 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 G intron GWASdb_trait 6 152302578 rs726281 G A rs726281 1.19E-04 Lung function (forced vital capacity) HPOID:0002088 DOID:850 G intron GWASdb_trait 6 152302578 rs726281 G A rs726281 8.30E-05 Body Mass Index HPOID:0001507 DOID:9970 G intron GWASdb_trait 6 152313146 rs9340941 C T rs9340941 6.90E-04 Asthma HPOID:0002099 DOID:2841 T intron GWASdb_trait 6 152319865 rs9340953 G A rs9340953 0.000000687 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 G intron GWASdb_trait 6 152340288 rs2207232 T C rs2207232 8.86E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 T intron GWASdb_trait 6 152342788 rs9340996 G T rs9340996 2.90E-11 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 G intron GWASdb_trait 6 152358179 rs2982712 T C rs2982712 4.00E-10 Height HPOID:0000002 NA C intron GWASdb_trait 6 152383713 rs9341023 C T rs9341023 3.50E-33 LDL cholesterol HPOID:0010979 DOID:1936|DOID:3393 C intron GWASdb_trait 6 152383713 rs9341023 C T rs9341023 4.22E-72 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 C intron GWASdb_trait 6 152383713 rs9341023 C T rs9341023 8.20E-82 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 C intron GWASdb_trait 6 152383713 rs9341023 C T rs9341023 9.51E-18 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 C intron GWASdb_trait 6 152418236 rs9341059 C T rs9341059 5.51E-13 LDL cholesterol HPOID:0010979 DOID:1936|DOID:3393 C intron GWASdb_trait 6 152418236 rs9341059 C T rs9341059 6.06E-20 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 C intron GWASdb_trait 6 152421130 rs3798577 T C rs3798577 2.31E-05 Height HPOID:0000002 NA T UTR-3 GWASdb_trait 6 152421130 rs3798577 T C rs3798577 3.58E-05 Lung function (forced vital capacity) HPOID:0002088 DOID:850 T UTR-3 GWASdb_trait 6 152422455 rs9341074 T A rs9341074 0.000000423 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 T UTR-3 GWASdb_trait 6 152424243 rs3798757 T C rs3798757 0.00000141 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 A UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000091831.21 ESR1 133430