KLHDC8B c.376+154A>C

Variant ID: 3-49210732-A-C

NM_173546.2(KLHDC8B):c.376+154A>C

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Genome- and transcriptome-wide splicing associations with alcohol use disorder.

Scientific Reports
Huggett, Spencer B SB; Ikeda, Ami S AS; Yuan, Qingyue Q; Benca-Bachman, Chelsie E CE; Palmer, Rohan H C RHC
Publication Date: 2023-03-09

Variant appearance in text: rs7617480
PubMed Link: 36894673
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_30926.pdf
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Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.

Nature Communications
Levin, Michael G MG; Tsao, Noah L NL; Singhal, Pankhuri P; Liu, Chang C; Vy, Ha My T HMT; Paranjpe, Ishan I; Backman, Joshua D JD; Bellomo, Tiffany R TR; Bone, William P WP; Biddinger, Kiran J KJ; Hui, Qin Q; Dikilitas, Ozan O; Satterfield, Benjamin A BA; Yang, Yifan Y; Morley, Michael P MP; Bradford, Yuki Y; Burke, Megan M; Reza, Nosheen N; Charest, Brian B; , ; Judy, Renae L RL; Puckelwartz, Megan J MJ; Hakonarson, Hakon H; Khan, Atlas A; Kottyan, Leah C LC; Kullo, Iftikhar I; Luo, Yuan Y; McNally, Elizabeth M EM; Rasmussen-Torvik, Laura J LJ; Day, Sharlene M SM; Do, Ron R; Phillips, Lawrence S LS; Ellinor, Patrick T PT; Nadkarni, Girish N GN; Ritchie, Marylyn D MD; Arany, Zoltan Z; Cappola, Thomas P TP; Margulies, Kenneth B KB; Aragam, Krishna G KG; Haggerty, Christopher M CM; Joseph, Jacob J; Sun, Yan V YV; Voight, Benjamin F BF; Damrauer, Scott M SM
Publication Date: 2022-11-14

Variant appearance in text: rs7617480
PubMed Link: 36376295
Variant Present in the following documents:
  • 41467_2022_Article_34216.pdf
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Regional gene expression signatures are associated with sex-specific functional connectivity changes in depression.

Nature Communications
Talishinsky, Aleksandr A; Downar, Jonathan J; Vértes, Petra E PE; Seidlitz, Jakob J; Dunlop, Katharine K; Lynch, Charles J CJ; Whalley, Heather H; McIntosh, Andrew A; Vila-Rodriguez, Fidel F; Daskalakis, Zafiris J ZJ; Blumberger, Daniel M DM; Liston, Conor C
Publication Date: 2022-09-28

Variant appearance in text: rs7617480
PubMed Link: 36171190
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_32617.pdf
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Bi-ancestral depression GWAS in the Million Veteran Program and meta-analysis in >1.2 million individuals highlight new therapeutic directions.

Nature Neuroscience
Levey, Daniel F DF; Stein, Murray B MB; Wendt, Frank R FR; Pathak, Gita A GA; Zhou, Hang H; Aslan, Mihaela M; Quaden, Rachel R; Harrington, Kelly M KM; Nuñez, Yaira Z YZ; Overstreet, Cassie C; Radhakrishnan, Krishnan K; Sanacora, Gerard G; McIntosh, Andrew M AM; Shi, Jingchunzi J; Shringarpure, Suyash S SS; , ; , ; Concato, John J; Polimanti, Renato R; Gelernter, Joel J
Publication Date: 2021-07

Variant appearance in text: rs7617480
PubMed Link: 34045744
Variant Present in the following documents:
  • Main text
  • NIHMS1695113-supplement-Supplementary_File_2.pdf
  • nihms-1695113.pdf
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Smoking and heart failure: a Mendelian randomization and mediation analysis.

Esc Heart Failure
Lu, Yunlong Y; Xu, Zhouming Z; Georgakis, Marios K MK; Wang, Zhen Z; Lin, Hefeng H; Zheng, Liangrong L
Publication Date: 2021-06

Variant appearance in text: rs7617480
PubMed Link: 33656795
Variant Present in the following documents:
  • EHF2-8-1954-s001.pdf
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: KLHDC8B: 376+154A>C; rs7617480
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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Genetic variations, reproductive aging, and breast cancer risk in African American and European American women: The Women's Circle of Health Study.

Plos One
Coignet, Marie V MV; Zirpoli, Gary Robert GR; Roberts, Michelle R MR; Khoury, Thaer T; Bandera, Elisa V EV; Zhu, Qianqian Q; Yao, Song S
Publication Date: 2017

Variant appearance in text: rs7617480
PubMed Link: 29073238
Variant Present in the following documents:
  • Main text
  • pone.0187205.pdf
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs7617480
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs7617480
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-3.pdf
  • NIHMS780506-supplement-8.pdf
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Genome wide association study of age at menarche in the Japanese population.

Plos One
Tanikawa, Chizu C; Okada, Yukinori Y; Takahashi, Atsushi A; Oda, Katsutoshi K; Kamatani, Naoyuki N; Kubo, Michiaki M; Nakamura, Yusuke Y; Matsuda, Koichi K
Publication Date: 2013

Variant appearance in text: rs7617480
PubMed Link: 23667675
Variant Present in the following documents:
  • Main text
  • pone.0063821.pdf
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Genome-wide association study of age at menarche in African-American women.

Human Molecular Genetics
Demerath, Ellen W EW; Liu, Ching-Ti CT; Franceschini, Nora N; Chen, Gary G; Palmer, Julie R JR; Smith, Erin N EN; Chen, Christina T L CT; Ambrosone, Christine B CB; Arnold, Alice M AM; Bandera, Elisa V EV; Berenson, Gerald S GS; Bernstein, Leslie L; Britton, Angela A; Cappola, Anne R AR; Carlson, Christopher S CS; Chanock, Stephen J SJ; Chen, Wei W; Chen, Zhao Z; Deming, Sandra L SL; Elks, Cathy E CE; Evans, Michelle K MK; Gajdos, Zofia Z; Henderson, Brian E BE; Hu, Jennifer J JJ; Ingles, Sue S; John, Esther M EM; Kerr, Kathleen F KF; Kolonel, Laurence N LN; Le Marchand, Loic L; Lu, Xiaoning X; Millikan, Robert C RC; Musani, Solomon K SK; Nock, Nora L NL; North, Kari K; Nyante, Sarah S; Press, Michael F MF; Rodriquez-Gil, Jorge L JL; Ruiz-Narvaez, Edward A EA; Schork, Nicholas J NJ; Srinivasan, Sathanur R SR; Woods, Nancy F NF; Zheng, Wei W; Ziegler, Regina G RG; Zonderman, Alan A; Heiss, Gerardo G; Gwen Windham, B B; Wellons, Melissa M; Murray, Sarah S SS; Nalls, Michael M; Pastinen, Tomi T; Rajkovic, Aleksandar A; Hirschhorn, Joel J; Adrienne Cupples, L L; Kooperberg, Charles C; Murabito, Joanne M JM; Haiman, Christopher A CA
Publication Date: 2013-08-15

Variant appearance in text: rs7617480
PubMed Link: 23599027
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of GWAS-identified genetic variants for age at menarche among Chinese women.

Human Reproduction (Oxford, England)
Delahanty, R J RJ; Beeghly-Fadiel, A A; Long, J R JR; Gao, Y T YT; Lu, W W; Xiang, Y B YB; Zheng, Y Y; Ji, B T BT; Wen, W Q WQ; Cai, Q Y QY; Zheng, W W; Shu, X O XO
Publication Date: 2013-04

Variant appearance in text: rs7617480
PubMed Link: 23406970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.

Human Molecular Genetics
Chen, Christina T L CT; Fernández-Rhodes, Lindsay L; Brzyski, Robert G RG; Carlson, Christopher S CS; Chen, Zhao Z; Heiss, Gerardo G; North, Kari E KE; Woods, Nancy F NF; Rajkovic, Aleksandar A; Kooperberg, Charles C; Franceschini, Nora N
Publication Date: 2012-03-15

Variant appearance in text: rs7617480
PubMed Link: 22131368
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.

Nature Genetics
Elks, Cathy E CE; Perry, John R B JR; Sulem, Patrick P; Chasman, Daniel I DI; Franceschini, Nora N; He, Chunyan C; Lunetta, Kathryn L KL; Visser, Jenny A JA; Byrne, Enda M EM; Cousminer, Diana L DL; Gudbjartsson, Daniel F DF; Esko, Tõnu T; Feenstra, Bjarke B; Hottenga, Jouke-Jan JJ; Koller, Daniel L DL; Kutalik, Zoltán Z; Lin, Peng P; Mangino, Massimo M; Marongiu, Mara M; McArdle, Patrick F PF; Smith, Albert V AV; Stolk, Lisette L; van Wingerden, Sophie H SH; Zhao, Jing Hua JH; Albrecht, Eva E; Corre, Tanguy T; Ingelsson, Erik E; Hayward, Caroline C; Magnusson, Patrik K E PK; Smith, Erin N EN; Ulivi, Shelia S; Warrington, Nicole M NM; Zgaga, Lina L; Alavere, Helen H; Amin, Najaf N; Aspelund, Thor T; Bandinelli, Stefania S; Barroso, Inês I; Berenson, Gerald S GS; Bergmann, Sven S; Blackburn, Hannah H; Boerwinkle, Eric E; Buring, Julie E JE; Busonero, Fabio F; Campbell, Harry H; Chanock, Stephen J SJ; Chen, Wei W; Cornelis, Marilyn C MC; Couper, David D; Coviello, Andrea D AD; d'Adamo, Pio P; de Faire, Ulf U; de Geus, Eco J C EJ; Deloukas, Panos P; Döring, Angela A; Smith, George Davey GD; Easton, Douglas F DF; Eiriksdottir, Gudny G; Emilsson, Valur V; Eriksson, Johan J; Ferrucci, Luigi L; Folsom, Aaron R AR; Foroud, Tatiana T; Garcia, Melissa M; Gasparini, Paolo P; Geller, Frank F; Gieger, Christian C; , ; Gudnason, Vilmundur V; Hall, Per P; Hankinson, Susan E SE; Ferreli, Liana L; Heath, Andrew C AC; Hernandez, Dena G DG; Hofman, Albert A; Hu, Frank B FB; Illig, Thomas T; Järvelin, Marjo-Riitta MR; Johnson, Andrew D AD; Karasik, David D; Khaw, Kay-Tee KT; Kiel, Douglas P DP; Kilpeläinen, Tuomas O TO; Kolcic, Ivana I; Kraft, Peter P; Launer, Lenore J LJ; Laven, Joop S E JS; Li, Shengxu S; Liu, Jianjun J; Levy, Daniel D; Martin, Nicholas G NG; McArdle, Wendy L WL; Melbye, Mads M; Mooser, Vincent V; Murray, Jeffrey C JC; Murray, Sarah S SS; Nalls, Michael A MA; Navarro, Pau P; Nelis, Mari M; Ness, Andrew R AR; Northstone, Kate K; Oostra, Ben A BA; Peacock, Munro M; Palmer, Lyle J LJ; Palotie, Aarno A; Paré, Guillaume G; Parker, Alex N AN; Pedersen, Nancy L NL; Peltonen, Leena L; Pennell, Craig E CE; Pharoah, Paul P; Polasek, Ozren O; Plump, Andrew S AS; Pouta, Anneli A; Porcu, Eleonora E; Rafnar, Thorunn T; Rice, John P JP; Ring, Susan M SM; Rivadeneira, Fernando F; Rudan, Igor I; Sala, Cinzia C; Salomaa, Veikko V; Sanna, Serena S; Schlessinger, David D; Schork, Nicholas J NJ; Scuteri, Angelo A; Segrè, Ayellet V AV; Shuldiner, Alan R AR; Soranzo, Nicole N; Sovio, Ulla U; Srinivasan, Sathanur R SR; Strachan, David P DP; Tammesoo, Mar-Liis ML; Tikkanen, Emmi E; Toniolo, Daniela D; Tsui, Kim K; Tryggvadottir, Laufey L; Tyrer, Jonathon J; Uda, Manuela M; van Dam, Rob M RM; van Meurs, Joyce B J JB; Vollenweider, Peter P; Waeber, Gerard G; Wareham, Nicholas J NJ; Waterworth, Dawn M DM; Weedon, Michael N MN; Wichmann, H Erich HE; Willemsen, Gonneke G; Wilson, James F JF; Wright, Alan F AF; Young, Lauren L; Zhai, Guangju G; Zhuang, Wei Vivian WV; Bierut, Laura J LJ; Boomsma, Dorret I DI; Boyd, Heather A HA; Crisponi, Laura L; Demerath, Ellen W EW; van Duijn, Cornelia M CM; Econs, Michael J MJ; Harris, Tamara B TB; Hunter, David J DJ; Loos, Ruth J F RJ; Metspalu, Andres A; Montgomery, Grant W GW; Ridker, Paul M PM; Spector, Tim D TD; Streeten, Elizabeth A EA; Stefansson, Kari K; Thorsteinsdottir, Unnur U; Uitterlinden, André G AG; Widen, Elisabeth E; Murabito, Joanne M JM; Ong, Ken K KK; Murray, Anna A
Publication Date: 2010-12

Variant appearance in text: rs7617480
PubMed Link: 21102462
Variant Present in the following documents:
  • Main text
View BVdb publication page