References
References - curated
Region Genes in Region
RGD ID | Symbol | Name | Chr | Start | Stop | Species | 1601958 | PNPLA3 | patatin like phospholipase domain containing 3 | 22 | 43923805 | 43947582 | Human | |
Position Markers
Peak: (rs3747207) |
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QTLs in Region (GRCh38)
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
Additional Information
GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog | ||
The highlighted row represents the current QTL |
QTL | GWAS Catalog Study | Disease Trait | Study Size | Risk Allele | Risk Allele Frequency | P Value | P Value MLOG | Peak Marker | Reported Odds Ratio or Beta-coefficient | Ontology Accession | PubMed |
GWAS593729_H | GCST90247557 | Fructose-bisphosphate aldolase B levels | 10,708 European ancestry individuals | A | 0.22 | 1E-13 | 13 | rs3747207 | 0.114 | protein measurement (EFO:0004747) |
PMID:34648354 |
GWAS600706_H | GCST004603 | Platelet count | 166,066 European ancestry individuals | A | 0.2138 | 9E-15 | 14.046 | rs3747207 | 0.03453617 | platelet count (EFO:0004309) |
PMID:27863252 |
None Available | GCST004621 | Red cell distribution width | 171,529 European ancestry individuals | A | 0.2139 | 5E-9 | 8.302 | rs3747207 | 0.02530545 | Red cell distribution width (EFO:0009188) |
PMID:27863252 |
GWAS610418_H | GCST90246433 | Alcohol dehydrogenase 1A levels | 10,708 European ancestry individuals | A | 0.22 | 2E-15 | 14.699 | rs3747207 | 0.125 | protein measurement (EFO:0004747) |
PMID:34648354 |
GWAS615210_H | GCST90249398 | Ribonuclease UK114 levels | 10,708 European ancestry individuals | A | 0.22 | 1E-12 | 12 | rs3747207 | 0.113 | ribonuclease UK114 measurement (EFO:0802020) |
PMID:34648354 |
GWAS640795_H | GCST90002322 | Mean corpuscular hemoglobin | 486,823 European ancestry individuals | A | 0.215331 | 1E-25 | 25 | rs3747207 | 0.02444 | mean corpuscular hemoglobin concentration (EFO:0004528) |
PMID:32888493 |
GWAS645382_H | GCST90012107 | Sex hormone-binding globulin levels | 189,473 European ancestry women | A | 0.214383 | 4E-27 | 26.398 | rs3747207 | 0.018691 | sex hormone-binding globulin measurement (EFO:0004696) |
PMID:32042192 |
GWAS645910_H | GCST90012106 | Sex hormone-binding globulin levels adjusted for BMI | 188,908 European ancestry women | A | 0.214383 | 1E-30 | 30 | rs3747207 | 0.0172527 | sex hormone-binding globulin measurement (EFO:0004696) |
PMID:32042192 |
None Available | GCST90269529 | Average diameter for LDL particles (UKB data field 23432) | 88,329 European ancestry individuals | A | 0.214398 | 1E-12 | 12 | rs3747207 | 0.0401093 | low density lipoprotein particle size measurement (EFO:0008593) |
PMID:36764567 |
GWAS700276_H | GCST90271929 | Nonalcoholic fatty liver disease | 2,757 European ancestry cases, 460,161 European ancestry controls | ? | NR | 5E-8 | 7.302 | rs3747207 | N/A | non-alcoholic fatty liver disease (EFO:0003095) |
PMID:36986172 |
None Available | GCST90245325 | N-acetylmethionine levels | 14,296 European ancestry individuals | A | 0.2181 | 1E-12 | 12 | rs3747207 | 0.08685526 | N-acetylmethionine measurement (EFO:0021427) |
PMID:36357675 |
GWAS730302_H | GCST90301978 | Cholesteryl esters to total lipids ratio in IDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | A | 0.2308 | 2E-14 | 13.699 | rs3747207 | 0.0361 | cholesteryl esters:total lipids ratio (EFO:0020944) intermediate density lipoprotein measurement (EFO:0008595) |
PMID:38448586 |
GWAS731799_H | GCST90269707 | Cholesterol to total lipids in IDL percentage (UKB data field 23610) | 88,329 European ancestry individuals | A | 0.214398 | 3E-11 | 10.523 | rs3747207 | 0.0375538 | cholesterol to total lipids in IDL percentage (EFO:0022233) |
PMID:36764567 |
GWAS735859_H | GCST90269706 | Phospholipids to total lipids in IDL percentage (UKB data field 23609) | 88,329 European ancestry individuals | A | 0.214398 | 2E-21 | 20.699 | rs3747207 | 0.0549596 | phospholipids:total lipids ratio (EFO:0020946) |
PMID:36764567 |
GWAS745528_H | GCST90269688 | Cholesteryl esters to total lipids in large VLDL percentage (UKB data field 23591) | 88,321 European ancestry individuals | A | 0.214395 | 1E-10 | 10 | rs3747207 | 0.0356145 | cholesteryl esters to total lipids in large VLDL percentage (EFO:0022250) |
PMID:36764567 |
GWAS746192_H | GCST90269690 | Triglycerides to total lipids in large VLDL percentage (UKB data field 23593) | 88,321 European ancestry individuals | A | 0.214395 | 4E-13 | 12.398 | rs3747207 | 0.0418537 | triglycerides to total lipids in large VLDL percentage (EFO:0022332) |
PMID:36764567 |
None Available | GCST007143 | Total cholesterol levels | 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals | G | 0.781 | 5E-8 | 7.302 | rs3747207 | 0.032 | total cholesterol measurement (EFO:0004574) |
PMID:29507422 |
GWAS746363_H | GCST007143 | Total cholesterol levels | 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals | G | NR | 4E-9 | 8.398 | rs3747207 | 0.03 | total cholesterol measurement (EFO:0004574) |
PMID:29507422 |
GWAS813880_H | GCST90060991 | Triacylglycerol(56:6)_[M+NH4]1+ levels | 5,662 Pakistani ancestry individuals | G | NR | 5E-12 | 11.302 | rs3747207 | 0.0639 | triglyceride measurement (EFO:0004530) |
PMID:34503513 |
GWAS816086_H | GCST90013663 | Alanine aminotransferase levels | 387,859 British ancestry individuals, 10,635 Asian or Asian British individuals, 7,468 Black or Black British individuals, 2,338 Chinese ancestry individuals | ? | NR | 6E-9 | 8.222 | rs3747207 | 0.0872815 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:34315874 |
GWAS816088_H | GCST90013664 | Aspartate aminotransferase levels | 386,570 British ancestry individuals, 10,617 Asian or Asian British individuals, 7,426 Black or Black British individuals, 2,321 Chinese ancestry individuals | ? | NR | 2E-12 | 11.699 | rs3747207 | 0.110671364 | aspartate aminotransferase measurement (EFO:0004736) |
PMID:34315874 |
GWAS831315_H | GCST90018858 | Hepatic cancer | 379 European ancestry cases, 475,259 European ancestry controls, 2,122 East Asian ancestry cases, 159,201 East Asian ancestry controls | A | NR | 4E-14 | 13.398 | rs3747207 | 0.2256 | liver neoplasm (EFO:1001513) |
PMID:34594039 |
GWAS832926_H | GCST90018757 | Serum uric acid levels | 129,405 East Asian ancestry individuals | A | 0.45251 | 2E-9 | 8.699 | rs3747207 | 0.0212271 | uric acid measurement (EFO:0004761) |
PMID:34594039 |
GWAS834417_H | GCST90092871 | Cholesteryl esters to total lipids ratio in large VLDL | 115,071 European ancestry individuals | G | 0.785005 | 6E-12 | 11.222 | rs3747207 | 0.0330817 | very low density lipoprotein cholesterol measurement (EFO:0008317) cholesteryl esters:total lipids ratio (EFO:0020944) |
PMID:35213538 |
GWAS835764_H | GCST90092865 | Phospholipids to total lipids ratio in large LDL | 115,082 European ancestry individuals | G | 0.785004 | 4E-8 | 7.398 | rs3747207 | 0.027621 | low density lipoprotein cholesterol measurement (EFO:0004611) phospholipids:total lipids ratio (EFO:0020946) |
PMID:35213538 |
GWAS835952_H | GCST90092879 | Triglycerides to total lipids ratio in large VLDL | 115,071 European ancestry individuals | G | 0.785005 | 2E-13 | 12.699 | rs3747207 | 0.0367849 | triglycerides:total lipids ratio (EFO:0020947) very low density lipoprotein cholesterol measurement (EFO:0008317) |
PMID:35213538 |
GWAS842593_H | GCST90134477 | Aspartate aminotransferase levels | 5,694 African ancestry individuals, 1,988 East Asian ancestry individuals, 336,298 European ancestry individuals, 6,036 South Asian ancestry individuals | ? | NR | 1E-91 | 91 | rs3747207 | N/A | aspartate aminotransferase measurement (EFO:0004736) |
PMID:35810165 |
GWAS843692_H | GCST90018749 | Platelet count | 148,623 East Asian ancestry individuals | A | 0.453285 | 7E-38 | 37.155 | rs3747207 | 0.0429808 | platelet count (EFO:0004309) |
PMID:34594039 |
None Available | GCST90104297 | Sex hormone-binding globulin levels | 4,522 African ancestry individuals, 196,901 European ancestry individuals | ? | NR | 1E-12 | 12 | rs3747207 | 7.133 | sex hormone-binding globulin measurement (EFO:0004696) |
PMID:35192695 |
None Available | GCST90060994 | Triacylglycerol(56:5)_[M+NH4]1+ levels | 5,662 Pakistani ancestry individuals | A | NR | 5E-12 | 11.302 | rs3747207 | 0.1748 | triglyceride measurement (EFO:0004530) |
PMID:34503513 |
None Available | GCST90129603 | Chronic elevation of alanine aminotransferase (cALT) levels | 23,977 African American cases, 13,387 African American controls | A | 0.135 | 2E-21 | 20.699 | rs3747207 | 0.213 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:35654975 |
None Available | GCST90087111 | Serum levels of protein ARFIP2 | 5,364 Icelandic ancestry individuals | A | 0.2298 | 5E-12 | 11.302 | rs3747207 | 0.152786 | blood protein measurement (EFO:0007937) |
PMID:35078996 |
GWAS862260_H | GCST90092889 | Average diameter for LDL particles | 115,082 European ancestry individuals | G | 0.785004 | 1E-18 | 18 | rs3747207 | 0.0432358 | low density lipoprotein particle size measurement (EFO:0008593) |
PMID:35213538 |
GWAS865386_H | GCST90054782 | Nonalcoholic fatty liver disease | 4,761 European ancestry cases, 373,227 European ancestry controls | A | 0.215 | 2E-87 | 86.699 | rs3747207 | 1.45 | non-alcoholic fatty liver disease (EFO:0003095) |
PMID:34535985 |
GWAS866652_H | GCST90399702 | Gout | 557 Admixed American ancestry cases, 17,629 Admixed American ancestry controls, 533 South Asian ancestry cases, 30,288 South Asian ancestry controls, 1,312 African ancestry cases, 33,902 African ancestry controls, 10,425 East Asian ancestry cases, 338,934 East Asian ancestry controls, 24,278 European ancestry cases, 1,027,375 European ancestry controls | A | 0.2668 | 5E-21 | 20.302 | rs3747207 | 0.087546 | gout (EFO:0004274) |
PMID:36777996 |
GWAS869071_H | GCST010555 | Type 2 diabetes | 148,726 European ancestry cases, 965,732 European ancestry controls | G | 0.7791 | 9E-18 | 17.046 | rs3747207 | 0.0471 | PMID:32541925 | |
GWAS889423_H | GCST90092841 | Triglyceride levels in IDL | 115,082 European ancestry individuals | G | 0.785004 | 3E-9 | 8.523 | rs3747207 | 0.0292799 | triglyceride measurement (EFO:0004530) intermediate density lipoprotein measurement (EFO:0008595) |
PMID:35213538 |
GWAS889992_H | GCST90092834 | Cholesteryl esters to total lipids ratio in IDL | 115,082 European ancestry individuals | G | 0.785004 | 2E-11 | 10.699 | rs3747207 | 0.0329961 | cholesteryl esters:total lipids ratio (EFO:0020944) intermediate density lipoprotein measurement (EFO:0008595) |
PMID:35213538 |
GWAS893049_H | GCST90018638 | Hepatic cancer | 2,122 East Asian ancestry cases, 159,201 East Asian ancestry controls | A | 0.45223993 | 2E-8 | 7.699 | rs3747207 | 0.17805915 | liver neoplasm (EFO:1001513) |
PMID:34594039 |
GWAS893959_H | GCST90104277 | Sex hormone-binding globulin levels in postmenopausal women | 92,911 European ancestry individuals | A | 0.214518 | 7E-10 | 9.155 | rs3747207 | 0.0348788 | sex hormone-binding globulin measurement (EFO:0004696) |
PMID:35192695 |
GWAS900818_H | GCST90432179 | Body fat percentage (adjusted for testosterone and SHBG) | 157,937 British ancestry males | ? | NR | 8E-9 | 8.097 | rs3747207 | 0.13 | body fat percentage (EFO:0007800) |
PMID:37867527 |
GWAS906881_H | GCST90011736 | Fibrosis-4 index in high alcohol intake | 33,324 British ancestry individuals | ? | 0.2145 | 2E-16 | 15.699 | rs3747207 | 0.01112 | liver fibrosis measurement (EFO:0010576) |
PMID:32561361 |
GWAS910966_H | GCST90011737 | Aspartate transaminase levels in high alcohol intake | 34,101 British ancestry individuals | ? | 0.2145 | 6E-78 | 77.222 | rs3747207 | 0.02303 | aspartate aminotransferase measurement (EFO:0004736) |
PMID:32561361 |
GWAS910975_H | GCST90011738 | Alanine transaminase levels in high alcohol intake | 34,238 British ancestry individuals | ? | 0.2145 | 4E-82 | 81.398 | rs3747207 | 0.03319 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:32561361 |
None Available | GCST90011734 | Forns index in high alcohol intake | 33,437 British ancestry individuals | ? | 0.2145 | 2E-8 | 7.699 | rs3747207 | 0.003215 | liver fibrosis measurement (EFO:0010576) |
PMID:32561361 |
GWAS913801_H | GCST90011735 | Aspartate aminotransferase platelet ratio index in high alcohol intake | 33,330 British ancestry individuals | ? | 0.2145 | 2E-62 | 61.699 | rs3747207 | 0.02784 | liver fibrosis measurement (EFO:0010576) |
PMID:32561361 |
GWAS918861_H | GCST90104273 | Sex hormone-binding globulin levels | 196,901 European ancestry individuals | A | 0.214518 | 8E-13 | 12.097 | rs3747207 | 0.0277217 | sex hormone-binding globulin measurement (EFO:0004696) |
PMID:35192695 |
GWAS918877_H | GCST90092832 | Cholesterol to total lipids ratio in IDL | 115,082 European ancestry individuals | G | 0.785004 | 1E-14 | 14 | rs3747207 | 0.037818 | cholesterol:total lipids ratio (EFO:0020943) intermediate density lipoprotein measurement (EFO:0008595) |
PMID:35213538 |
GWAS921082_H | GCST010557 | Type 2 diabetes | 148,726 European ancestry cases, 24,646 African American cases, 8,616 Hispanic cases, 46,511 Asian ancestry cases, 965,732 European ancestry controls, 31,446 African American controls, 11,829 Hispanic controls, 169,776 Asian ancestry controls | G | 0.7178 | 4E-21 | 20.398 | rs3747207 | 0.0412 | PMID:32541925 | |
None Available | GCST007381 | Alanine aminotransferase levels in excessive alcohol consumption | 951 individuals | ? | NR | 3E-9 | 8.523 | rs3747207 | 0.0238 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:30589442 |
GWAS925788_H | GCST007377 | Aspartate aminotransferase levels in excessive alcohol consumption | 951 individuals | ? | NR | 6E-8 | 7.222 | rs3747207 | 0.0143 | aspartate aminotransferase measurement (EFO:0004736) |
PMID:30589442 |
GWAS936949_H | GCST90018943 | Alanine aminotransferase levels | 344,136 European ancestry individuals, 150,545 East Asian ancestry individuals | A | NR | 2E-344 | 343.699 | rs3747207 | 0.0844 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:34594039 |
None Available | GCST90092951 | Concentration of small HDL particles | 115,082 European ancestry individuals | G | 0.785004 | 3E-9 | 8.523 | rs3747207 | 0.0297501 | high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:35213538 |
None Available | GCST90239664 | Triglyceride levels | 1,320,016 European ancestry individuals | A | 0.222259 | 3E-9 | 8.523 | rs3747207 | 0.0121357 | triglyceride measurement (EFO:0004530) |
PMID:34887591 |
GWAS961249_H | GCST90024573 | Alkyldiacylglycerol (O-50:1) [NL-16:0] levels | 4,492 European ancestry individuals | A | NR | 3E-8 | 7.523 | rs3747207 | 0.144 | diglyceride measurement (EFO:0010223) |
PMID:35668104 |
GWAS961253_H | GCST90024575 | Alkyldiacylglycerol (O-52:2) [NL-16:0] levels | 4,492 European ancestry individuals | A | NR | 2E-18 | 17.699 | rs3747207 | 0.228 | diglyceride measurement (EFO:0010223) |
PMID:35668104 |
None Available | GCST90024570 | Triacylglycerol (56:6) [NL-20:4] levels | 4,492 European ancestry individuals | A | NR | 8E-9 | 8.097 | rs3747207 | 0.151 | triacylglycerol 56:6 measurement (EFO:0010433) |
PMID:35668104 |
GWAS962811_H | GCST90239655 | Low density lipoprotein cholesterol levels | 40,963 South Asian ancestry individuals, 48,057 Hispanic individuals, 99,432 Admixed African or African ancestry individuals, 146,492 East Asian ancestry individuals, 1,320,016 European ancestry individuals | ? | NR | 8E-18 | 17.097 | rs3747207 | N/A | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:34887591 |
GWAS964982_H | GCST90092946 | Cholesteryl ester levels in small HDL | 115,082 European ancestry individuals | G | 0.785004 | 5E-10 | 9.302 | rs3747207 | 0.0314014 | cholesteryl ester measurement (EFO:0010351) high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:35213538 |
GWAS965599_H | GCST90239658 | Low density lipoprotein cholesterol levels | 1,320,016 European ancestry individuals | A | 0.222288 | 6E-13 | 12.222 | rs3747207 | 0.0139089 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:34887591 |
GWAS967938_H | GCST90092944 | Cholesterol levels in small HDL | 115,082 European ancestry individuals | G | 0.785004 | 1E-8 | 8 | rs3747207 | 0.0285307 | total cholesterol measurement (EFO:0004574) high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:35213538 |
None Available | GCST90239677 | Total cholesterol levels | 48,057 Hispanic individuals | A | 0.445102 | 4E-14 | 13.398 | rs3747207 | 0.0585898 | total cholesterol measurement (EFO:0004574) |
PMID:34887591 |
GWAS973668_H | GCST90239675 | Total cholesterol levels | 146,492 East Asian ancestry individuals | A | 0.421125 | 1E-11 | 11 | rs3747207 | 0.0278063 | total cholesterol measurement (EFO:0004574) |
PMID:34887591 |
GWAS975467_H | GCST90092993 | Tyrosine levels | 114,913 European ancestry individuals | G | 0.784966 | 7E-9 | 8.155 | rs3747207 | 0.0288532 | tyrosine measurement (EFO:0005058) |
PMID:35213538 |
None Available | GCST90024606 | Total Alkyldiacylglycerol levels | 4,492 European ancestry individuals | A | NR | 2E-11 | 10.699 | rs3747207 | 0.175 | diglyceride measurement (EFO:0010223) |
PMID:35668104 |
GWAS978933_H | GCST90025814 | Alkyldiacylglycerol (O-52:2) [NL-16:0] levels | 4,492 European ancestry individuals | A | NR | 4E-12 | 11.398 | rs3747207 | 0.181 | diglyceride measurement (EFO:0010223) |
PMID:35668104 |
GWAS980909_H | GCST90239667 | Non-HDL cholesterol levels | 40,963 South Asian ancestry individuals, 48,057 Hispanic individuals, 99,432 Admixed African or African ancestry individuals, 146,492 East Asian ancestry individuals, 1,320,016 European ancestry individuals | ? | NR | 3E-28 | 27.523 | rs3747207 | N/A | non-high density lipoprotein cholesterol measurement (EFO:0005689) |
PMID:34887591 |
GWAS980999_H | GCST90018956 | HDL cholesterol | 315,133 European ancestry individuals, 74,970 East Asian ancestry individuals | A | NR | 5E-9 | 8.302 | rs3747207 | 0.014 | high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:34594039 |
None Available | GCST90093036 | Phospholipid levels in very small VLDL | 115,082 European ancestry individuals | G | 0.785004 | 6E-9 | 8.222 | rs3747207 | 0.0286469 | very low density lipoprotein cholesterol measurement (EFO:0008317) phospholipid measurement (EFO:0004639) |
PMID:35213538 |
None Available | GCST90018974 | Total cholesterol levels | 344,278 European ancestry individuals, 135,808 East Asian ancestry individuals | A | NR | 1E-13 | 13 | rs3747207 | 0.0165 | total cholesterol measurement (EFO:0004574) |
PMID:34594039 |
RGD Curation Notes
Note Type | Note | Reference |
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