Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis.
<p>Columns include chromosome (Chr), position in hg38 (Pos), reference and alternate (effect) alleles (Ref/Alt), nearest gene, alternate allele frequency (AAF) average, standard error, and min/max across POFC1, POFC2, and GENEVA OFC, p-values and direction of effects for POFC1, POFC2, and GENE...
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2025
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| _version_ | 1852016126834245632 |
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| author | Jenna C. Carlson (3950024) |
| author2 | Xinyi Zhang (36040) Zeynep Erdogan-Yildirim (22339770) Terri H. Beaty (9033168) Azeez Butali (7410884) Carmen J. Buxó (10576121) Lord J.J. Gowans (7410833) Jacqueline T. Hecht (8605047) Ross E. Long (10176353) Lina Moreno (134602) Jeffrey C. Murray (7410881) Ieda M. Orioli (10576118) Carmencita Padilla (10576112) George L. Wehby (9670086) Eleanor Feingold (10018) Elizabeth J. Leslie-Clarkson (20772341) Seth M. Weinberg (8605056) Mary L. Marazita (8605059) John R. Shaffer (9031025) |
| author2_role | author author author author author author author author author author author author author author author author author author |
| author_facet | Jenna C. Carlson (3950024) Xinyi Zhang (36040) Zeynep Erdogan-Yildirim (22339770) Terri H. Beaty (9033168) Azeez Butali (7410884) Carmen J. Buxó (10576121) Lord J.J. Gowans (7410833) Jacqueline T. Hecht (8605047) Ross E. Long (10176353) Lina Moreno (134602) Jeffrey C. Murray (7410881) Ieda M. Orioli (10576118) Carmencita Padilla (10576112) George L. Wehby (9670086) Eleanor Feingold (10018) Elizabeth J. Leslie-Clarkson (20772341) Seth M. Weinberg (8605056) Mary L. Marazita (8605059) John R. Shaffer (9031025) |
| author_role | author |
| dc.creator.none.fl_str_mv | Jenna C. Carlson (3950024) Xinyi Zhang (36040) Zeynep Erdogan-Yildirim (22339770) Terri H. Beaty (9033168) Azeez Butali (7410884) Carmen J. Buxó (10576121) Lord J.J. Gowans (7410833) Jacqueline T. Hecht (8605047) Ross E. Long (10176353) Lina Moreno (134602) Jeffrey C. Murray (7410881) Ieda M. Orioli (10576118) Carmencita Padilla (10576112) George L. Wehby (9670086) Eleanor Feingold (10018) Elizabeth J. Leslie-Clarkson (20772341) Seth M. Weinberg (8605056) Mary L. Marazita (8605059) John R. Shaffer (9031025) |
| dc.date.none.fl_str_mv | 2025-09-30T18:00:08Z |
| dc.identifier.none.fl_str_mv | 10.1371/journal.pgen.1011581.s004 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/dataset/Association_results_for_all_genome-wide_significant_variants_p_5e-8_from_European_ancestry_meta-analysis_/30250116 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Genetics Molecular Biology Biotechnology Evolutionary Biology Developmental Biology Cancer Mental Health Infectious Diseases Virology previously reported signal potential regulatory effects offer new clues novel association within nonsyndromic orofacial clefts embryonic facial development craniofacial enhancer activity biological processes result lead variant rs77075754 lead variant rs584402 lead variant rs4735314 lead variant rs17168118 three cohorts totaling observed novel association newly reported loci isolated cleft lip environmental risk factors five ofc phenotypes genes also overlapped div >< p orofacial cleft risk identify novel ofc without cleft palate xlink "> cl xlink "> also observed risk loci risk genes intronic variant intergenic variant ofc risk three regions identify subtype known ofc wide multi well characterized tissue twas tanc2 </ specific signals rbfox1 </ performed multi p ], ntn1 </ molecular mechanisms maximize power major hurdle grouped types esrp1 </ cald1 </ ancestry study |
| dc.title.none.fl_str_mv | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis. |
| dc.type.none.fl_str_mv | Dataset info:eu-repo/semantics/publishedVersion dataset |
| description | <p>Columns include chromosome (Chr), position in hg38 (Pos), reference and alternate (effect) alleles (Ref/Alt), nearest gene, alternate allele frequency (AAF) average, standard error, and min/max across POFC1, POFC2, and GENEVA OFC, p-values and direction of effects for POFC1, POFC2, and GENEVA OFC, respectively (? indicates variant was not present in that study) for the five cleft phenotypes. Abbreviations Any: any cleft, CL/P: cleft lip with/without cleft palate, CLP: cleft lip and palate, CLO: cleft lip only, CPO: cleft palate only.</p> <p>(XLSX)</p> |
| eu_rights_str_mv | openAccess |
| id | Manara_d70a1577e7662dfcd09ebfcd2b42e5e4 |
| identifier_str_mv | 10.1371/journal.pgen.1011581.s004 |
| network_acronym_str | Manara |
| network_name_str | ManaraRepo |
| oai_identifier_str | oai:figshare.com:article/30250116 |
| publishDate | 2025 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis.Jenna C. Carlson (3950024)Xinyi Zhang (36040)Zeynep Erdogan-Yildirim (22339770)Terri H. Beaty (9033168)Azeez Butali (7410884)Carmen J. Buxó (10576121)Lord J.J. Gowans (7410833)Jacqueline T. Hecht (8605047)Ross E. Long (10176353)Lina Moreno (134602)Jeffrey C. Murray (7410881)Ieda M. Orioli (10576118)Carmencita Padilla (10576112)George L. Wehby (9670086)Eleanor Feingold (10018)Elizabeth J. Leslie-Clarkson (20772341)Seth M. Weinberg (8605056)Mary L. Marazita (8605059)John R. Shaffer (9031025)GeneticsMolecular BiologyBiotechnologyEvolutionary BiologyDevelopmental BiologyCancerMental HealthInfectious DiseasesVirologypreviously reported signalpotential regulatory effectsoffer new cluesnovel association withinnonsyndromic orofacial cleftsembryonic facial developmentcraniofacial enhancer activitybiological processes resultlead variant rs77075754lead variant rs584402lead variant rs4735314lead variant rs17168118three cohorts totalingobserved novel associationnewly reported lociisolated cleft lipenvironmental risk factorsfive ofc phenotypesgenes also overlappeddiv >< porofacial cleft riskidentify novel ofcwithout cleft palatexlink "> clxlink ">also observedrisk locirisk genesintronic variantintergenic variantofc riskthree regionsidentify subtypeknown ofcwide multiwell characterizedtissue twastanc2 </specific signalsrbfox1 </performed multip ],ntn1 </molecular mechanismsmaximize powermajor hurdlegrouped typesesrp1 </cald1 </ancestry study<p>Columns include chromosome (Chr), position in hg38 (Pos), reference and alternate (effect) alleles (Ref/Alt), nearest gene, alternate allele frequency (AAF) average, standard error, and min/max across POFC1, POFC2, and GENEVA OFC, p-values and direction of effects for POFC1, POFC2, and GENEVA OFC, respectively (? indicates variant was not present in that study) for the five cleft phenotypes. Abbreviations Any: any cleft, CL/P: cleft lip with/without cleft palate, CLP: cleft lip and palate, CLO: cleft lip only, CPO: cleft palate only.</p> <p>(XLSX)</p>2025-09-30T18:00:08ZDatasetinfo:eu-repo/semantics/publishedVersiondataset10.1371/journal.pgen.1011581.s004https://figshare.com/articles/dataset/Association_results_for_all_genome-wide_significant_variants_p_5e-8_from_European_ancestry_meta-analysis_/30250116CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/302501162025-09-30T18:00:08Z |
| spellingShingle | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis. Jenna C. Carlson (3950024) Genetics Molecular Biology Biotechnology Evolutionary Biology Developmental Biology Cancer Mental Health Infectious Diseases Virology previously reported signal potential regulatory effects offer new clues novel association within nonsyndromic orofacial clefts embryonic facial development craniofacial enhancer activity biological processes result lead variant rs77075754 lead variant rs584402 lead variant rs4735314 lead variant rs17168118 three cohorts totaling observed novel association newly reported loci isolated cleft lip environmental risk factors five ofc phenotypes genes also overlapped div >< p orofacial cleft risk identify novel ofc without cleft palate xlink "> cl xlink "> also observed risk loci risk genes intronic variant intergenic variant ofc risk three regions identify subtype known ofc wide multi well characterized tissue twas tanc2 </ specific signals rbfox1 </ performed multi p ], ntn1 </ molecular mechanisms maximize power major hurdle grouped types esrp1 </ cald1 </ ancestry study |
| status_str | publishedVersion |
| title | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis. |
| title_full | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis. |
| title_fullStr | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis. |
| title_full_unstemmed | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis. |
| title_short | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis. |
| title_sort | Association results for all genome-wide significant variants (p < 5e-8) from European ancestry meta-analysis. |
| topic | Genetics Molecular Biology Biotechnology Evolutionary Biology Developmental Biology Cancer Mental Health Infectious Diseases Virology previously reported signal potential regulatory effects offer new clues novel association within nonsyndromic orofacial clefts embryonic facial development craniofacial enhancer activity biological processes result lead variant rs77075754 lead variant rs584402 lead variant rs4735314 lead variant rs17168118 three cohorts totaling observed novel association newly reported loci isolated cleft lip environmental risk factors five ofc phenotypes genes also overlapped div >< p orofacial cleft risk identify novel ofc without cleft palate xlink "> cl xlink "> also observed risk loci risk genes intronic variant intergenic variant ofc risk three regions identify subtype known ofc wide multi well characterized tissue twas tanc2 </ specific signals rbfox1 </ performed multi p ], ntn1 </ molecular mechanisms maximize power major hurdle grouped types esrp1 </ cald1 </ ancestry study |