References
References - curated
Region Genes in Region
RGD ID | Symbol | Name | Chr | Start | Stop | Species | 735387 | FUT2 | fucosyltransferase 2 (H blood group) | 19 | 48695971 | 48705951 | Human | 38660230 | LOC105447645 | uncharacterized LOC105447645 | 19 | 48702450 | 48703848 | Human | |
Position Markers
Peak: (rs602662) |
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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 |
GWAS578552_H | GCST004161 | Vitamin B12 levels | 1,001 Indo-European ancestry adults | A | NR | 6E-13 | 12.222 | rs602662 | 0.18 | vitamin B12 measurement (EFO:0004620) |
PMID:28334792 |
GWAS736924_H | GCST90011589 | OTU97_27 (Bacteroides) prevalence | 8,956 German ancestry individuals | ? | NR | 4E-7 | 6.398 | rs602662 | 0.1897172 | gut microbiome measurement (EFO:0007874) |
PMID:33462482 |
GWAS769884_H | GCST003097 | Pediatric autoimmune diseases | 97 European ancestry thyroiditis cases, 107 European ancestry ankylosing spondylitis cases, 100 European ancestry psoriasis cases, 173 European ancestry celiac disease cases, 254 European ancestry systemic lupus erythematosus cases, 308 European ancestry common variable inmunodeficiency cases, 865 European ancestry ulcerative colitis cases, 1,086 European ancestry Type 1 diabetes cases, 1,123 European ancestry juvenile idiopathic arthritis cases, 1,922 European ancestry Crohn's disease cases, 10,718 European ancestry controls | G | 0.49 | 5E-8 | 7.302 | rs602662 | N/A | autoimmune thyroid disease (EFO:0006812) ankylosing spondylitis (EFO:0003898) psoriasis (EFO:0000676) celiac disease (EFO:0001060) More... |
PMID:26301688 |
GWAS776767_H | GCST000358 | Folate pathway vitamin levels | 2,934 European ancestry individuals | A | 0.53 | 3E-20 | 19.523 | rs602662 | 49.77 | vitamin B12 measurement (EFO:0004620) |
PMID:19303062 |
GWAS786277_H | GCST000483 | Folate pathway vitamin levels | 3,305 European ancestry females, 1,458 European ancestry males | ? | 0.44 | 2E-15 | 14.699 | rs602662 | 0.07 | vitamin B12 measurement (EFO:0004620) |
PMID:19744961 |
GWAS834751_H | GCST90248850 | Pancreatic lipase-related protein 2 levels | 10,708 European ancestry individuals | A | 0.51 | 1E-25 | 25 | rs602662 | 0.144 | protein measurement (EFO:0004747) |
PMID:34648354 |
GWAS836854_H | GCST90249003 | Prolactin-inducible protein levels | 10,708 European ancestry individuals | A | 0.51 | 4E-17 | 16.398 | rs602662 | 0.112 | protein measurement (EFO:0004747) |
PMID:34648354 |
GWAS854240_H | GCST90269508 | Total phospholipids in lipoprotein particles (UKB data field 23411) | 88,329 European ancestry individuals | G | 0.465583 | 3E-11 | 10.523 | rs602662 | 0.0301398 | total phospholipids in lipoprotein particles measurement (EFO:0022315) |
PMID:36764567 |
GWAS858526_H | GCST90248540 | Mucin-16 levels | 10,708 European ancestry individuals | A | 0.51 | 5E-14 | 13.302 | rs602662 | 0.098 | protein measurement (EFO:0004747) |
PMID:34648354 |
GWAS1000053_H | GCST90092958 | Cholesteryl ester levels in small LDL | 115,082 European ancestry individuals | G | 0.465629 | 3E-10 | 9.523 | rs602662 | 0.0260331 | cholesteryl ester measurement (EFO:0010351) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
None Available | GCST90092809 | Apolipoprotein B levels | 115,082 European ancestry individuals | G | 0.465629 | 6E-13 | 12.222 | rs602662 | 0.0297244 | apolipoprotein B measurement (EFO:0004615) |
PMID:35213538 |
GWAS1000286_H | GCST90092930 | Total cholesterol minus HDL-C levels | 115,082 European ancestry individuals | G | 0.465629 | 3E-13 | 12.523 | rs602662 | 0.0299659 | total cholesterol measurement (EFO:0004574) |
PMID:35213538 |
GWAS1000511_H | GCST90092833 | Cholesteryl ester levels in IDL | 115,082 European ancestry individuals | G | 0.465629 | 1E-11 | 11 | rs602662 | 0.0270389 | cholesteryl ester measurement (EFO:0010351) intermediate density lipoprotein measurement (EFO:0008595) |
PMID:35213538 |
GWAS1001118_H | GCST90092856 | Cholesterol levels in large LDL | 115,082 European ancestry individuals | G | 0.465629 | 1E-12 | 12 | rs602662 | 0.0289967 | total cholesterol measurement (EFO:0004574) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1001514_H | GCST90092884 | Cholesteryl ester levels in LDL | 115,082 European ancestry individuals | G | 0.465629 | 3E-12 | 11.523 | rs602662 | 0.0286832 | cholesteryl ester measurement (EFO:0010351) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1001541_H | GCST90092943 | Remnant cholesterol (non-HDL, non-LDL -cholesterol) | 115,082 European ancestry individuals | G | 0.465629 | 8E-14 | 13.097 | rs602662 | 0.0307096 | remnant cholesterol measurement (EFO:0010815) |
PMID:35213538 |
GWAS1001816_H | GCST90092885 | Free cholesterol levels in LDL | 115,082 European ancestry individuals | G | 0.465629 | 1E-10 | 10 | rs602662 | 0.0263396 | free cholesterol measurement (EFO:0008591) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1002314_H | GCST90092956 | Cholesterol levels in small LDL | 115,082 European ancestry individuals | G | 0.465629 | 6E-10 | 9.222 | rs602662 | 0.0256144 | total cholesterol measurement (EFO:0004574) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
None Available | GCST90092904 | Cholesterol levels in medium LDL | 115,082 European ancestry individuals | G | 0.465629 | 3E-10 | 9.523 | rs602662 | 0.0260177 | total cholesterol measurement (EFO:0004574) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1002599_H | GCST90092912 | Phospholipid levels in medium LDL | 115,082 European ancestry individuals | G | 0.465629 | 1E-9 | 9 | rs602662 | 0.0251064 | low density lipoprotein cholesterol measurement (EFO:0004611) phospholipid measurement (EFO:0004639) |
PMID:35213538 |
GWAS1002604_H | GCST90092886 | Total lipid levels in LDL | 115,082 European ancestry individuals | G | 0.465629 | 2E-12 | 11.699 | rs602662 | 0.0289459 | low density lipoprotein cholesterol measurement (EFO:0004611) lipid measurement (EFO:0004529) |
PMID:35213538 |
None Available | GCST90092887 | Concentration of LDL particles | 115,082 European ancestry individuals | G | 0.465629 | 1E-12 | 12 | rs602662 | 0.029257 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
None Available | GCST90092960 | Free cholesterol levels in small LDL | 115,082 European ancestry individuals | G | 0.465629 | 5E-8 | 7.302 | rs602662 | 0.0224655 | free cholesterol measurement (EFO:0008591) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1002716_H | GCST90092883 | LDL cholesterol levels | 115,082 European ancestry individuals | G | 0.465629 | 6E-12 | 11.222 | rs602662 | 0.028308 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1002768_H | GCST90092863 | Concentration of large LDL particles | 115,082 European ancestry individuals | G | 0.465629 | 4E-12 | 11.398 | rs602662 | 0.0285857 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
None Available | GCST90092862 | Total lipid levels in large LDL | 115,082 European ancestry individuals | G | 0.465629 | 3E-13 | 12.523 | rs602662 | 0.0299137 | low density lipoprotein cholesterol measurement (EFO:0004611) lipid measurement (EFO:0004529) |
PMID:35213538 |
None Available | GCST90092888 | Phospholipid levels in LDL | 115,082 European ancestry individuals | G | 0.465629 | 3E-11 | 10.523 | rs602662 | 0.0274148 | low density lipoprotein cholesterol measurement (EFO:0004611) phospholipid measurement (EFO:0004639) |
PMID:35213538 |
None Available | GCST90092962 | Total lipid levels in small LDL | 115,082 European ancestry individuals | G | 0.465629 | 3E-10 | 9.523 | rs602662 | 0.0259552 | low density lipoprotein cholesterol measurement (EFO:0004611) lipid measurement (EFO:0004529) |
PMID:35213538 |
GWAS1002981_H | GCST90092988 | Total free cholesterol levels | 115,082 European ancestry individuals | G | 0.465629 | 4E-15 | 14.398 | rs602662 | 0.0317011 | free cholesterol measurement (EFO:0008591) |
PMID:35213538 |
GWAS1003105_H | GCST90092918 | Cholesteryl ester levels in medium VLDL | 115,082 European ancestry individuals | G | 0.465629 | 2E-11 | 10.699 | rs602662 | 0.02753 | cholesteryl ester measurement (EFO:0010351) very low density lipoprotein cholesterol measurement (EFO:0008317) |
PMID:35213538 |
None Available | GCST90092838 | Concentration of IDL particles | 115,082 European ancestry individuals | G | 0.465629 | 3E-11 | 10.523 | rs602662 | 0.0272464 | intermediate density lipoprotein measurement (EFO:0008595) |
PMID:35213538 |
GWAS1003335_H | GCST90092910 | Total lipid levels in medium LDL | 115,082 European ancestry individuals | G | 0.465629 | 2E-10 | 9.699 | rs602662 | 0.0263988 | low density lipoprotein cholesterol measurement (EFO:0004611) lipid measurement (EFO:0004529) |
PMID:35213538 |
GWAS1003720_H | GCST90092814 | Clinical LDL cholesterol levels | 115,082 European ancestry individuals | G | 0.465629 | 5E-11 | 10.302 | rs602662 | 0.0269861 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1003851_H | GCST90092858 | Cholesteryl ester levels in large LDL | 115,082 European ancestry individuals | G | 0.465629 | 8E-13 | 12.097 | rs602662 | 0.0293429 | cholesteryl ester measurement (EFO:0010351) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1003926_H | GCST90092908 | Free cholesterol levels in medium LDL | 115,082 European ancestry individuals | G | 0.465629 | 4E-9 | 8.398 | rs602662 | 0.0243617 | free cholesterol measurement (EFO:0008591) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1005788_H | GCST90234426 | Serine protease 27 level in Chronic kidney disease with hypertension and no diabetes (15535_3) | 466 African American individuals | A | 0.52 | 1E-14 | 14 | rs602662 | 0.46 | serine protease 27 measurement (EFO:0008280) |
PMID:35870639 |
GWAS1006076_H | GCST90234705 | Intestinal-type alkaline phosphatase level in Chronic kidney disease with hypertension and no diabetes (17441_4) | 466 African American individuals | A | 0.52 | 1E-23 | 23 | rs602662 | 0.58 | PMID:35870639 | |
GWAS1018994_H | GCST90090427 | Serum levels of protein GOLM1 | 5,362 Icelandic ancestry individuals | G | 0.3761 | 4E-26 | 25.398 | rs602662 | 0.200625 | blood protein measurement (EFO:0007937) |
PMID:35078996 |
GWAS1019786_H | GCST90314204 | CPA1/CTRC protein level ratio | 43,509 European ancestry individuals | ? | NR | 1E-81 | 81 | rs602662 | 0.129603 | blood protein measurement (EFO:0007937) |
PMID:38412862 |
GWAS1021542_H | GCST90315937 | TNFRSF1A/TNFRSF1B protein level ratio | 43,509 European ancestry individuals | ? | NR | 7E-47 | 46.155 | rs602662 | 0.0990576 | blood protein measurement (EFO:0007937) |
PMID:38412862 |
GWAS1025947_H | GCST90277442 | Vitamin B12 levels | 38,229 Danish, Icelandic ancestry individuals | A | 0.596 | 2E-139 | 138.699 | rs602662 | N/A | vitamin B12 measurement (EFO:0004620) |
PMID:23754956 |
GWAS1028245_H | GCST90315653 | PIK3IP1/TNFRSF1A protein level ratio | 43,509 European ancestry individuals | ? | NR | 8E-27 | 26.097 | rs602662 | 0.0739144 | blood protein measurement (EFO:0007937) |
PMID:38412862 |
GWAS1031837_H | GCST90314211 | CPB1/PRSS2 protein level ratio | 43,509 European ancestry individuals | ? | NR | 8E-16 | 15.097 | rs602662 | 0.0551315 | blood protein measurement (EFO:0007937) |
PMID:38412862 |
GWAS1033497_H | GCST90314209 | CPB1/CTRC protein level ratio | 43,509 European ancestry individuals | ? | NR | 2E-97 | 96.699 | rs602662 | 0.141178 | blood protein measurement (EFO:0007937) |
PMID:38412862 |
None Available | GCST90320263 | Human milk oligosaccharide concentration (2'-fucosyllactose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 3E-174 | 173.523 | rs602662 | 28.145 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320270 | Human milk oligosaccharide concentration (disialyllacto-N-hexaose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 6E-9 | 8.222 | rs602662 | 5.828 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320274 | Human milk oligosaccharide concentration (lacto-N-fucopentaose-I) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 2E-148 | 147.699 | rs602662 | 25.949 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320284 | Total concentration of 19 human milk oligosaccharides | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 1E-109 | 109 | rs602662 | 22.241 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320267 | Human milk oligosaccharide concentration (difucosyllacto-N-hexaose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 7E-29 | 28.155 | rs602662 | 11.149 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320264 | Human milk oligosaccharide concentration (3'-fucosyllactose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 3E-43 | 42.523 | rs602662 | 13.793 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320280 | Human milk oligosaccharide concentration (sialyl-lacto-N-tetraose b) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 3E-36 | 35.523 | rs602662 | 12.582 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320276 | Human milk oligosaccharide concentration (lacto-N-fucopentaose-III) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 1E-33 | 33 | rs602662 | 12.082 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320283 | Human milk oligosaccharide concentration (Sialic acid-bound) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 3E-24 | 23.523 | rs602662 | 10.161 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320272 | Human milk oligosaccharide concentration (fucodisialyllacto-N-hexaose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 7E-78 | 77.155 | rs602662 | 18.683 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320282 | Human milk oligosaccharide concentration (Fucose-bound) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 1E-147 | 147 | rs602662 | 25.872 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320268 | Human milk oligosaccharide concentration (difucosyllacto-N-tetrose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 6E-33 | 32.222 | rs602662 | 11.958 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320273 | Human milk oligosaccharide concentration (fucosyllacto-N-hexaose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 2E-12 | 11.699 | rs602662 | 7.053 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320278 | Human milk oligosaccharide concentration (lacto-N-tetrose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 3E-29 | 28.523 | rs602662 | 11.219 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320275 | Human milk oligosaccharide concentration (lacto-N-fucopentaose-II) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 6E-111 | 110.222 | rs602662 | 22.378 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320265 | Human milk oligosaccharide concentration (3'-sialyllactose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 2E-15 | 14.699 | rs602662 | 7.952 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320269 | Human milk oligosaccharide concentration (difucosyllactose) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 2E-104 | 103.699 | rs602662 | 21.695 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
None Available | GCST90320281 | Human milk oligosaccharide concentration (sialyl-lacto-N-tetraose c) | 764 European ancestry individuals, 48 South Asian ancestry individuals, 126 East Asian ancestry individuals, 26 African American or Afro-Caribbean individuals, 16 Other admixed ancestry and unknown ancestry individuals | A | NR | 2E-17 | 16.699 | rs602662 | 8.512 | breast milk measurement (EFO:0009092) |
PMID:39232002 |
RGD Curation Notes
Note Type | Note | Reference |
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