References
References - curated
Region Genes in Region
RGD ID | Symbol | Name | Chr | Start | Stop | Species | 1318717 | MAU2 | MAU2 sister chromatid cohesion factor | 19 | 19320829 | 19358754 | Human | |
Position Markers
Peak: (rs73001065) |
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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 |
GWAS555242_H | GCST007141 | Low density lipoprotein 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 | 0.934 | 2E-13 | 12.699 | rs73001065 | 0.07 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:29507422 |
None Available | GCST007141 | Low density lipoprotein 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 | 2E-13 | 12.699 | rs73001065 | 0.067 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:29507422 |
GWAS556575_H | GCST007142 | Triglycerides | 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 | 0.934 | 3E-32 | 31.523 | rs73001065 | 0.1 | triglyceride measurement (EFO:0004530) |
PMID:29507422 |
GWAS556579_H | GCST007142 | Triglycerides | 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 | 3E-36 | 35.523 | rs73001065 | 0.102 | triglyceride measurement (EFO:0004530) |
PMID:29507422 |
GWAS557606_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 | 0.934 | 1E-23 | 23 | rs73001065 | 0.093 | total cholesterol measurement (EFO:0004574) |
PMID:29507422 |
GWAS558591_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 | 2E-24 | 23.699 | rs73001065 | 0.091 | total cholesterol measurement (EFO:0004574) |
PMID:29507422 |
GWAS769564_H | GCST002898 | LDL cholesterol | up 62,166 European ancestry individuals | G | 0.93 | 3E-23 | 22.523 | rs73001065 | 0.114 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:25961943 |
GWAS816319_H | GCST008046 | Triglyceride levels | 9,980 African American individuals, 17,856 Hispanic/Latino individuals, 2,381 Asian ancestry individuals, 1,915 Native Hawaiian ancestry individuals, 604 Native American ancestry individuals, 360 individuals | ? | NR | 0.000002 | 5.699 | rs73001065 | 0.0593626 | triglyceride measurement (EFO:0004530) |
PMID:31217584 |
GWAS1000561_H | GCST90024563 | Triacylglycerol (54:1) [NL-18:1] levels | 4,492 European ancestry individuals | C | NR | 2E-11 | 10.699 | rs73001065 | 0.279 | triacylglycerol 54:1 measurement (EFO:0010419) |
PMID:35668104 |
GWAS1000562_H | GCST90024564 | Triacylglycerol (54:2) [NL-18:0] levels | 4,492 European ancestry individuals | C | NR | 2E-8 | 7.699 | rs73001065 | 0.235 | triacylglycerol 54:2 measurement (EFO:0010420) |
PMID:35668104 |
GWAS1004038_H | GCST90301982 | Concentration of IDL particles | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 3E-45 | 44.523 | rs73001065 | 0.1155 | intermediate density lipoprotein measurement (EFO:0008595) |
PMID:38448586 |
GWAS1004214_H | GCST90301963 | Free cholesterol levels | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0667 | 1E-45 | 45 | rs73001065 | 0.1168 | free cholesterol measurement (EFO:0008591) |
PMID:38448586 |
GWAS1004494_H | GCST90302075 | Serum total cholesterol levels | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0667 | 9E-47 | 46.046 | rs73001065 | 0.1184 | total cholesterol measurement (EFO:0004574) |
PMID:38448586 |
GWAS1004536_H | GCST90302062 | Free cholesterol to total lipids ratio in medium VLDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0667 | 2E-16 | 15.699 | rs73001065 | 0.0666 | very low density lipoprotein cholesterol measurement (EFO:0008317) free cholesterol:total lipids ratio (EFO:0020945) |
PMID:38448586 |
GWAS1004763_H | GCST90302095 | Free cholesterol in small LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0667 | 1E-28 | 28 | rs73001065 | 0.0915 | free cholesterol in small LDL measurement (EFO:0022271) |
PMID:38448586 |
GWAS1005113_H | GCST90302017 | Triglycerides in large LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 4E-26 | 25.398 | rs73001065 | 0.0868 | triglycerides in large LDL measurement (EFO:0022319) |
PMID:38448586 |
GWAS1005372_H | GCST90302015 | Phospholipids in large LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 4E-44 | 43.398 | rs73001065 | 0.1155 | phospholipids in large LDL measurement (EFO:0022174) |
PMID:38448586 |
GWAS1005588_H | GCST90302154 | Free cholesterol in very small VLDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0668 | 2E-42 | 41.699 | rs73001065 | 0.1109 | free cholesterol in very small VLDL measurement (EFO:0022275) |
PMID:38448586 |
GWAS1006130_H | GCST90302173 | Triglycerides to total lipids ratio in chylomicrons and extremely large VLDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 110,896 European ancestry individuals | C | 0.0657 | 9E-16 | 15.046 | rs73001065 | 0.0696 | chylomicron measurement (EFO:0008596) triglycerides:total lipids ratio (EFO:0020947) very low density lipoprotein cholesterol measurement (EFO:0008317) |
PMID:38448586 |
GWAS1006139_H | GCST90301975 | Total Cholesterol in IDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0667 | 1E-42 | 42 | rs73001065 | 0.1129 | total cholesterol in IDL (EFO:0022184) |
PMID:38448586 |
GWAS1006436_H | GCST90301957 | Esterified cholesterol levels | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 5E-44 | 43.302 | rs73001065 | 0.1153 | esterified cholesterol measurement (EFO:0008589) |
PMID:38448586 |
GWAS1006697_H | GCST90302091 | Total Cholesterol in small LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 3E-33 | 32.523 | rs73001065 | 0.0996 | total cholesterol in small LDL (EFO:0022179) |
PMID:38448586 |
GWAS1007267_H | GCST90302150 | Total cholesterol in very small VLDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0668 | 5E-48 | 47.302 | rs73001065 | 0.1189 | cholesterol in very small VLDL measurement (EFO:0022231) |
PMID:38448586 |
GWAS1007333_H | GCST90301983 | Phospholipids in IDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 1E-38 | 38 | rs73001065 | 0.1066 | phospholipids in IDL measurement (EFO:0022164) |
PMID:38448586 |
GWAS1007609_H | GCST90301979 | Free cholesterol in IDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0667 | 1E-30 | 30 | rs73001065 | 0.0951 | free cholesterol in IDL measurement (EFO:0022181) |
PMID:38448586 |
GWAS1008373_H | GCST90302099 | Phospholipids in small LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 5E-45 | 44.302 | rs73001065 | 0.1167 | phospholipids in small LDL measurement (EFO:0022297) |
PMID:38448586 |
GWAS1008390_H | GCST90301977 | Cholesterol esters in IDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0667 | 4E-47 | 46.398 | rs73001065 | 0.1189 | esterified cholesterol measurement (EFO:0008589) intermediate density lipoprotein measurement (EFO:0008595) |
PMID:38448586 |
GWAS1008552_H | GCST90302043 | Total cholesterol in medium LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 8E-34 | 33.097 | rs73001065 | 0.1005 | total cholesterol in medium LDL (EFO:0022185) |
PMID:38448586 |
GWAS1008873_H | GCST90302050 | Concentration of medium LDL particles | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 1E-39 | 39 | rs73001065 | 0.1092 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:38448586 |
GWAS1009172_H | GCST90302011 | Free cholesterol in large LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 6E-29 | 28.222 | rs73001065 | 0.0924 | free cholesterol in large LDL measurement (EFO:0022176) |
PMID:38448586 |
GWAS1009209_H | GCST90302051 | Phospholipids in medium LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 2E-49 | 48.699 | rs73001065 | 0.1225 | phospholipids in medium LDL measurement (EFO:0022183) |
PMID:38448586 |
None Available | GCST90301991 | Total cholesterol levels in LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 3E-36 | 35.523 | rs73001065 | 0.1043 | total cholesterol measurement (EFO:0004574) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:38448586 |
GWAS1010443_H | GCST90302047 | Free cholesterol in medium LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 3E-29 | 28.523 | rs73001065 | 0.0929 | free cholesterol in medium LDL measurement (EFO:0022268) |
PMID:38448586 |
GWAS1010785_H | GCST90302014 | Concentration of large LDL particles | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 3E-42 | 41.523 | rs73001065 | 0.1129 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:38448586 |
GWAS1011706_H | GCST90302013 | Total lipids in large LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 2E-41 | 40.699 | rs73001065 | 0.1118 | total lipids in large LDL (EFO:0022163) |
PMID:38448586 |
None Available | GCST90301981 | Total lipids in IDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0667 | 5E-45 | 44.302 | rs73001065 | 0.1163 | total lipids in IDL (EFO:0022161) |
PMID:38448586 |
GWAS1012572_H | GCST90302007 | Total cholesterol in large LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 8E-39 | 38.097 | rs73001065 | 0.108 | total cholesterol in large LDL (EFO:0022167) |
PMID:38448586 |
None Available | GCST90302049 | Total lipid levels in medium LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 1E-38 | 38 | rs73001065 | 0.1079 | low density lipoprotein cholesterol measurement (EFO:0004611) lipid measurement (EFO:0004529) |
PMID:38448586 |
GWAS1013132_H | GCST90302009 | Cholesterol esters in large LDL | 4,435 East Asian ancestry individuals, 11,340 South Asian ancestry individuals, 120,241 European ancestry individuals | C | 0.0666 | 6E-42 | 41.222 | rs73001065 | 0.1125 | cholesterol esters in large LDL measurement (EFO:0022165) |
PMID:38448586 |
GWAS1015226_H | GCST90012053 | Cathepsin D levels | 21,758 European ancestry individuals | C | 0.075 | 2E-15 | 14.699 | rs73001065 | 0.1066 | cathepsin D measurement (EFO:0010611) |
PMID:33067605 |
GWAS1023624_H | GCST90054782 | Nonalcoholic fatty liver disease | 4,761 European ancestry cases, 373,227 European ancestry controls | C | 0.071 | 8E-30 | 29.097 | rs73001065 | 1.41 | non-alcoholic fatty liver disease (EFO:0003095) |
PMID:34535985 |
GWAS1038901_H | GCST90428730 | Gamma glutamyl transferase levels | 875,069 European ancestry individuals | C | NR | 1E-9 | 9 | rs73001065 | 0.0061 | serum gamma-glutamyl transferase measurement (EFO:0004532) |
PMID:38632349 |
GWAS1040403_H | GCST90094907 | Nonalcoholic fatty liver disease | 2,181 European ancestry cases, 2,444 European ancestry controls | ? | NR | 1E-8 | 8 | rs73001065 | 0.0746081 | non-alcoholic fatty liver disease (EFO:0003095) |
PMID:35047847 |
None Available | GCST90310294 | Systolic blood pressure | 1,028,980 European ancestry individuals | C | NR | 2E-8 | 7.699 | rs73001065 | 0.2704 | systolic blood pressure (EFO:0006335) |
PMID:38689001 |
None Available | GCST90091627 | Fasting triglycerides levels in very large HDL | null | C | 0.070642745 | 4E-8 | 7.398 | rs73001065 | 0.225534 | triglyceride measurement (EFO:0004530) high density lipoprotein cholesterol measurement (EFO:0004612) |
PMID:34610981 |
GWAS1063252_H | GCST90310295 | Diastolic blood pressure | 1,028,980 European ancestry individuals | C | NR | 2E-18 | 17.699 | rs73001065 | 0.2628 | diastolic blood pressure (EFO:0006336) |
PMID:38689001 |
RGD Curation Notes
Note Type | Note | Reference |
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