Transcript ID | Name | Length | RefSeq ID | Protein ID | Length | RefSeq ID | UniportKB ID |
---|---|---|---|---|---|---|---|
ENST00000497770 | THADA-219 | 390 | - | - | - (aa) | - | - |
ENST00000469323 | THADA-213 | 547 | - | - | - (aa) | - | - |
ENST00000462185 | THADA-211 | 544 | - | - | - (aa) | - | - |
ENST00000402360 | THADA-202 | 2974 | - | ENSP00000385441 | 937 (aa) | - | Q6YHU6 |
ENST00000405975 | THADA-207 | 6114 | XM_006712063 | ENSP00000386088 | 1953 (aa) | XP_006712126 | Q6YHU6 |
ENST00000486735 | THADA-218 | 564 | - | - | - (aa) | - | - |
ENST00000402796 | THADA-203 | 2749 | - | ENSP00000385003 | 408 (aa) | - | H7BYZ4 |
ENST00000404790 | THADA-205 | 3043 | - | ENSP00000384266 | 894 (aa) | - | Q6YHU6 |
ENST00000473004 | THADA-214 | 549 | - | - | - (aa) | - | - |
ENST00000407351 | THADA-208 | 3678 | XM_006712069 | ENSP00000386112 | 1193 (aa) | XP_006712132 | H0Y3V5 |
ENST00000474159 | THADA-215 | 1975 | - | ENSP00000445294 | 348 (aa) | - | F5H3M9 |
ENST00000467668 | THADA-212 | 382 | - | - | - (aa) | - | - |
ENST00000408045 | THADA-209 | 5585 | - | ENSP00000384172 | 297 (aa) | - | B6ZDE5 |
ENST00000485353 | THADA-217 | 698 | - | - | - (aa) | - | - |
ENST00000436947 | THADA-210 | 611 | - | - | - (aa) | - | - |
ENST00000403856 | THADA-204 | 6939 | - | ENSP00000385469 | 870 (aa) | - | B5MC89 |
ENST00000485018 | THADA-216 | 837 | - | - | - (aa) | - | - |
ENST00000405006 | THADA-206 | 6310 | - | ENSP00000385995 | 1953 (aa) | - | Q6YHU6 |
ENST00000398653 | THADA-201 | 5900 | - | ENSP00000381647 | 297 (aa) | - | B6ZDE5 |
ensgID | Trait | pValue | Pubmed ID |
---|---|---|---|
ENSG00000115970 | Atherosclerosis | 7.7375036E-005 | - |
ENSG00000115970 | Thyrotropin | 3.4440000E-005 | - |
ENSG00000115970 | Drug Resistance | 6E-6 | 22952603 |
ENSG00000115970 | Inflammatory Bowel Diseases | 8E-16 | 26192919 |
ENSG00000115970 | Inflammatory Bowel Diseases | 8E-12 | 23128233 |
ENSG00000115970 | Hair | 1E-7 | 19896111 |
ENSG00000115970 | Polycystic Ovary Syndrome | 2E-23 | 21151128 |
ENSG00000115970 | Polycystic Ovary Syndrome | 3E-23 | 21151128 |
ENSG00000115970 | Creatinine | 7E-7 | 26831199 |
ENSG00000115970 | Glomerular Filtration Rate | 7E-7 | 26831199 |
ENSG00000115970 | DNA Methylation | 8E-7 | 23725790 |
ENSG00000115970 | Prostatic Neoplasms | 4E-6 | 22219177 |
ENSG00000115970 | Inflammatory Bowel Diseases | 6E-9 | 28067908 |
ENSG00000115970 | Crohn Disease | 4E-11 | 28067908 |
ENSG00000115970 | Crohn Disease | 3E-13 | 26192919 |
ENSG00000115970 | Platelet Count | 1E-10 | 22139419 |
ENSG00000115970 | GRN protein, human | 1E-8 | 22863734 |
ENSG00000115970 | Alopecia | 2E-8 | 27182965 |
ENSG00000115970 | Polycystic Ovary Syndrome | 4E-13 | 22885925 |
ENSG00000115970 | Cleft Lip | 9E-8 | 20023658 |
ENSG00000115970 | Crohn Disease | 2E-14 | 21102463 |
ENSG00000115970 | DNA, Mitochondrial | 4E-6 | 25240745 |
ENSG00000115970 | Prostatic Neoplasms | 2E-8 | 19767753 |
ENSG00000115970 | Polycystic Ovary Syndrome | 3E-10 | 26416764 |
ENSG00000115970 | Age-Related Hearing Impairment 1 | 4E-9 | 24939585 |
ENSG00000115970 | Diabetes Mellitus, Type 2 | 1E-9 | 18372903 |
ensgID | SNP | Chromosome | Position | SNP-risk | Trait | PubmedID | 95% CI | Or or BEAT | EFO ID |
---|---|---|---|---|---|---|---|---|---|
ENSG00000115970 | rs113542380 | 2 | 43237679 | G | Intraocular pressure | 29617998 | [0.15-0.25] unit decrease | 0.202 | EFO_0004695 |
ENSG00000115970 | rs77059113 | 2 | 43445369 | T | Intraocular pressure | 29617998 | [0.14-0.24] unit decrease | 0.19 | EFO_0004695 |
ENSG00000115970 | rs10203174 | 2 | 43462891 | C | Type 2 diabetes | 22885922 | [1.10-1.19] | 1.14 | EFO_0001360 |
ENSG00000115970 | rs13405158 | 2 | 43478147 | T | Type 2 diabetes | 22885922 | [1.11-1.22] | 1.16 | EFO_0001360 |
ENSG00000115970 | rs113542380 | 2 | 43237679 | A | Mean corpuscular hemoglobin | 27863252 | [0.043-0.07] unit increase | 0.05647488 | EFO_0004527 |
ENSG00000115970 | rs113542380 | 2 | 43237679 | A | Mean corpuscular volume | 27863252 | [0.046-0.073] unit increase | 0.05927439 | EFO_0004526 |
ENSG00000115970 | rs183816209 | 2 | 43362921 | ? | Viral capsid antigen IgG seropositivity | 29868224 | [1.30-2.44] | 1.69 | EFO_0009272 |
ENSG00000115970 | rs10495903 | 2 | 43579779 | T | Crohn's disease | 21102463 | [1.09-1.20] | 1.14 | EFO_0000384 |
ENSG00000115970 | rs13429458 | 2 | 43411699 | ? | Response to amphetamines | 22952603 | GO_0042493 | ||
ENSG00000115970 | rs2888875 | 2 | 43560953 | A | Glomerular filtration rate (creatinine) | 26831199 | [0.0025-0.0057] unit increase | 0.0041 | EFO_0005208|EFO_0004518 |
ENSG00000115970 | rs17406451 | 2 | 43405337 | ? | Mitochondrial DNA levels | 25240745 | [NR] | EFO_0006312 | |
ENSG00000115970 | rs6732426 | 2 | 43360365 | T | Hair morphology | 19896111 | EFO_0005038 | ||
ENSG00000115970 | rs10495903 | 2 | 43579779 | A | Crohn's disease | 26192919 | [1.1-1.17] | 1.1337671 | EFO_0000384 |
ENSG00000115970 | rs78487399 | 2 | 43582208 | ? | Inflammatory bowel disease | 26192919 | EFO_0003767 | ||
ENSG00000115970 | rs11897432 | 2 | 43590366 | A | DNA methylation (variation) | 23725790 | GO_0006306 | ||
ENSG00000115970 | rs7590268 | 2 | 43312986 | G | Orofacial clefts | 22863734 | [1.225-1.636] | 1.415 | EFO_0004625 |
ENSG00000115970 | rs13429458 | 2 | 43411699 | A | Polycystic ovary syndrome | 22885925 | [NR] | 1.49 | EFO_0000660 |
ENSG00000115970 | rs17030845 | 2 | 43460740 | C | Platelet count | 22139419 | [2.49-4.67] 10^9/l increase | 3.577 | EFO_0004309 |
ENSG00000115970 | rs1465618 | 2 | 43326810 | ? | Prostate cancer | 19767753 | [1.03-1.12] | 1.08 | EFO_0001663 |
ENSG00000115970 | rs7590268 | 2 | 43312986 | G | Orofacial clefts | 20023658 | [1.26-1.59] | 1.42 | EFO_0003959 |
ENSG00000115970 | rs7578597 | 2 | 43505684 | C | Type 2 diabetes | 28869590 | [0.07-0.128] unit decrease | 0.099 | EFO_0001360 |
ENSG00000115970 | rs7578597 | 2 | 43505684 | C | Type 2 diabetes | 28869590 | [0.1-0.17] unit decrease | 0.1377 | EFO_0001360 |
ENSG00000115970 | rs6761129 | 2 | 43508574 | C | Heel bone mineral density | 28869591 | [0.025-0.046] unit decrease | 0.0355693 | EFO_0009270 |
ENSG00000115970 | rs6761129 | 2 | 43508574 | C | Heel bone mineral density | 28869591 | [0.024-0.053] unit decrease | 0.0382273 | EFO_0009270 |
ENSG00000115970 | rs6743071 | 2 | 43359148 | T | Type 2 diabetes | 29358691 | 1.1863722 | EFO_0001360 | |
ENSG00000115970 | rs6740322 | 2 | 43334790 | A | Coronary artery disease | 29212778 | [0.024-0.056] unit decrease | 0.04 | EFO_0000378 |
ENSG00000115970 | rs113542380 | 2 | 43237679 | ? | Intraocular pressure | 30054594 | [0.11-0.21] unit increase | 0.1602 | EFO_0004695 |
ENSG00000115970 | rs77972916 | 2 | 43534973 | A | Granulocyte percentage of myeloid white cells | 27863252 | [0.03-0.057] unit increase | 0.04378274 | EFO_0007997 |
ENSG00000115970 | rs78487399 | 2 | 43582208 | C | Myeloid white cell count | 27863252 | [0.026-0.05] unit increase | 0.03823174 | EFO_0007988 |
ENSG00000115970 | rs113542380 | 2 | 43237679 | A | Immature fraction of reticulocytes | 27863252 | [0.026-0.053] unit decrease | 0.03952053 | EFO_0007986 |
ENSG00000115970 | rs10495903 | 2 | 43579779 | ? | Crohn's disease | 28067908 | EFO_0000384 | ||
ENSG00000115970 | rs10495903 | 2 | 43579779 | ? | Inflammatory bowel disease | 28067908 | EFO_0003767 | ||
ENSG00000115970 | rs113542380 | 2 | 43237679 | A | Neutrophil count | 27863252 | [0.032-0.059] unit increase | 0.04593845 | EFO_0004833 |
ENSG00000115970 | rs113542380 | 2 | 43237679 | A | Plateletcrit | 27863252 | [0.069-0.096] unit decrease | 0.08249128 | EFO_0007985 |
ENSG00000115970 | rs190251311 | 2 | 43520702 | G | Stromal-cell-derived factor 1 alpha levels | 27989323 | [0.13-0.41] SD units decrease | 0.271 | EFO_0008293 |
ENSG00000115970 | rs12478601 | 2 | 43494369 | C | Polycystic ovary syndrome | 21151128 | [1.30-1.49] | 1.39 | EFO_0000660 |
ENSG00000115970 | rs13429458 | 2 | 43411699 | A | Polycystic ovary syndrome | 21151128 | [1.39-1.61] | 1.49 | EFO_0000660 |
ENSG00000115970 | rs7578597 | 2 | 43505684 | T | Type 2 diabetes | 18372903 | [1.10-1.20] | 1.15 | EFO_0001360 |
ENSG00000115970 | rs10495903 | 2 | 43579779 | T | Inflammatory bowel disease | 23128233 | [1.041-1.131] | 1.086 | EFO_0003767 |
ENSG00000115970 | rs78487399 | 2 | 43582208 | C | Granulocyte count | 27863252 | [0.028-0.052] unit increase | 0.04032608 | EFO_0007987 |
ENSG00000115970 | rs78487399 | 2 | 43582208 | C | Sum neutrophil eosinophil counts | 27863252 | [0.028-0.052] unit increase | 0.03988202 | EFO_0004833|EFO_0004842 |
ENSG00000115970 | rs11694173 | 2 | 43363760 | ? | Male-pattern baldness | 27182965 | [1.11-1.24] | 1.1737089 | EFO_0004191 |
ENSG00000115970 | rs78487399 | 2 | 43582208 | C | Sum basophil neutrophil counts | 27863252 | [0.029-0.053] unit increase | 0.04064826 | EFO_0004833|EFO_0005090 |
ENSG00000115970 | rs17334919 | 2 | 43480246 | T | Type 2 diabetes | 30054458 | [0.11-0.16] unit decrease | 0.1398 | EFO_0001360 |
ENSG00000115970 | rs6761129 | 2 | 43508574 | ? | Heel bone mineral density | 30048462 | [0.018-0.031] unit decrease | 0.0241704 | EFO_0009270 |
ENSG00000115970 | rs7590268 | 2 | 43312986 | ? | Nonsyndromic cleft lip with or without cleft palate | 30067744 | HP_0000175|EFO_0003959 | ||
ENSG00000115970 | rs17031076 | 2 | 43576329 | ? | Adolescent idiopathic scoliosis | 30019117 | EFO_0005423 | ||
ENSG00000115970 | rs113542380 | 2 | 43237679 | G | Intraocular pressure | 29785010 | [0.11-0.21] unit decrease | 0.16 | EFO_0004695 |
ENSG00000115970 | rs7563201 | 2 | 43334641 | A | Polycystic ovary syndrome | 30566500 | [0.074-0.142] unit decrease | 0.1081 | EFO_0000660 |
ENSG00000115970 | rs6732426 | 2 | 43360365 | T | Male-pattern baldness | 28196072 | NR unit increase | 0.0344078 | Orphanet_79364 |
ENSG00000115970 | rs11694173 | 2 | 43363760 | A | Male-pattern baldness | 28196072 | NR unit increase | 0.04 | Orphanet_79364 |
ENSG00000115970 | rs17030818 | 2 | 43453179 | C | Heel bone mineral density | 30598549 | [0.019-0.03] unit decrease | 0.0245601 | EFO_0009270 |
ENSG00000115970 | rs10166054 | 2 | 43391901 | ? | Balding type 1 | 30595370 | EFO_0007825 | ||
ENSG00000115970 | rs11124931 | 2 | 43372113 | G | Male-pattern baldness | 30573740 | [0.021-0.033] unit decrease | 0.0270782 | EFO_0007825 |
ENSG00000115970 | rs75126888 | 2 | 43436868 | T | Male-pattern baldness | 30573740 | [0.029-0.049] unit increase | 0.0391562 | EFO_0007825 |
ENSG00000115970 | rs13414381 | 2 | 43340079 | ? | Type 2 diabetes | 30595370 | EFO_0001360 | ||
ENSG00000115970 | rs11888640 | 2 | 43579243 | ? | Latent autoimmune diabetes | 30254083 | [1.1-1.27] | 1.1833298 | EFO_0009706 |
ENSG00000115970 | rs35590893 | 2 | 43489794 | A | Systolic blood pressure | 30224653 | [0.16-0.27] mmHg decrease | 0.2152 | EFO_0006335 |
ENSG00000115970 | rs77881454 | 2 | 43530154 | ? | Waist-hip ratio | 30595370 | EFO_0004343 | ||
ENSG00000115970 | rs67584485 | 2 | 43535056 | ? | White blood cell count | 30595370 | EFO_0004308 | ||
ENSG00000115970 | rs7557989 | 2 | 43403518 | ? | Red blood cell count | 30595370 | EFO_0004305 | ||
ENSG00000115970 | rs6544650 | 2 | 43389673 | ? | Hair color | 30595370 | EFO_0007822 | ||
ENSG00000115970 | rs6708660 | 2 | 43525243 | ? | Systolic blood pressure | 30595370 | EFO_0006335 | ||
ENSG00000115970 | rs3764769 | 2 | 43505819 | ? | Cardiovascular disease | 30595370 | EFO_0000319 | ||
ENSG00000115970 | rs77972916 | 2 | 43534973 | ? | Lung function (FEV1/FVC) | 30595370 | EFO_0004713 | ||
ENSG00000115970 | rs77972916 | 2 | 43534973 | ? | Eosinophil counts | 30595370 | EFO_0004842 | ||
ENSG00000115970 | rs7609283 | 2 | 43438039 | ? | Heel bone mineral density | 30595370 | EFO_0009270 | ||
ENSG00000115970 | rs1465618 | 2 | 43326810 | T | Prostate cancer | 29892016 | [1.07-1.11] | 1.09 | EFO_0001663 |
ENSG00000115970 | rs35720761 | 2 | 43292838 | C | Type 2 diabetes | 29632382 | [1.05-1.10] | 1.08 | EFO_0001360 |
ENSG00000115970 | rs35720761 | 2 | 43292838 | C | Type 2 diabetes (adjusted for BMI) | 29632382 | [1.05-1.10] | 1.07 | EFO_0001360 |
ENSG00000115970 | rs35720761 | 2 | 43292838 | C | Type 2 diabetes | 29632382 | [1.05-1.10] | 1.08 | EFO_0001360 |
ENSG00000115970 | rs35720761 | 2 | 43292838 | C | Type 2 diabetes (adjusted for BMI) | 29632382 | [1.06-1.10] | 1.08 | EFO_0001360 |
Go ID | Go_term | PubmedID | Evidence | Category |
---|---|---|---|---|
GO:0005515 | protein binding | 25416956. | IPI | Function |
GO:0005829 | cytosol | 21873635. | IBA | Component |
GO:0030488 | tRNA methylation | 21873635. | IBA | Process |
GO:0032471 | negative regulation of endoplasmic reticulum calcium ion concentration | 28399403. | IMP | Process |
GO:0055088 | lipid homeostasis | 28399403. | IGI | Process |
GO:0098554 | cytoplasmic side of endoplasmic reticulum membrane | - | ISS | Component |
GO:1901895 | negative regulation of calcium-transporting ATPase activity | - | ISS | Process |
GO:1990845 | adaptive thermogenesis | - | ISS | Process |