HPR c.5+4366C>G

Variant ID: 16-72101525-C-G

NM_020995.3(HPR):c.5+4366C>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


The Role of Calcium, 25-Hydroxyvitamin D, and Parathyroid Hormone in Irritable Bowel Syndrome: A Bidirectional Two-Sample Mendelian Randomization Study.

Nutrients
Xie, Ning N; Xie, Jiale J; Wang, Ziwei Z; Shu, Qiuai Q; Shi, Haitao H; Wang, Jinhai J; Liu, Na N; Xu, Feng F; Wu, Jian J
Publication Date: 2022-12-01

Variant appearance in text: rs34042070
PubMed Link: 36501135
Variant Present in the following documents:
  • Main text
  • nutrients-14-05109.pdf
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Nonparametric bounds in two-sample summary-data Mendelian randomization: Some cautionary tales for practice.

Statistics In Medicine
Trane, Ralph Møller RM; Kang, Hyunseung H
Publication Date: 2022-06-30

Variant appearance in text: rs34042070
PubMed Link: 35355302
Variant Present in the following documents:
  • SIM-41-2523-s001.pdf
View BVdb publication page



A trans-omic Mendelian randomization study of parental lifespan uncovers novel aging biology and therapeutic candidates for chronic diseases.

Aging Cell
Perrot, Nicolas N; Pelletier, William W; Bourgault, Jérôme J; Couture, Christian C; Li, Zhonglin Z; Mitchell, Patricia L PL; Ghodsian, Nooshin N; Bossé, Yohan Y; Thériault, Sébastien S; Mathieu, Patrick P; Arsenault, Benoit J BJ
Publication Date: 2021-11

Variant appearance in text: rs34042070
PubMed Link: 34704651
Variant Present in the following documents:
  • Main text
  • ACEL-20-e13497.pdf
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Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases.

Nature Genetics
Zheng, Jie J; Haberland, Valeriia V; Baird, Denis D; Walker, Venexia V; Haycock, Philip C PC; Hurle, Mark R MR; Gutteridge, Alex A; Erola, Pau P; Liu, Yi Y; Luo, Shan S; Robinson, Jamie J; Richardson, Tom G TG; Staley, James R JR; Elsworth, Benjamin B; Burgess, Stephen S; Sun, Benjamin B BB; Danesh, John J; Runz, Heiko H; Maranville, Joseph C JC; Martin, Hannah M HM; Yarmolinsky, James J; Laurin, Charles C; Holmes, Michael V MV; Liu, Jimmy Z JZ; Estrada, Karol K; Santos, Rita R; McCarthy, Linda L; Waterworth, Dawn D; Nelson, Matthew R MR; Smith, George Davey GD; Butterworth, Adam S AS; Hemani, Gibran G; Scott, Robert A RA; Gaunt, Tom R TR
Publication Date: 2020-10

Variant appearance in text: rs34042070
PubMed Link: 32895551
Variant Present in the following documents:
  • EMS118445-supplement-Supplementary_Figures_and_notes.pdf
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Polygenic Hyperlipidemias and Coronary Artery Disease Risk.

Circulation. Genomic And Precision Medicine
Ripatti, Pietari P; Rämö, Joel T JT; Mars, Nina J NJ; Fu, Yu Y; Lin, Jake J; Söderlund, Sanni S; Benner, Christian C; Surakka, Ida I; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Palta, Priit P; Freimer, Nelson B NB; Widén, Elisabeth E; Salomaa, Veikko V; Tukiainen, Taru T; Pirinen, Matti M; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Ripatti, Samuli S; ,
Publication Date: 2020-04

Variant appearance in text: rs34042070
PubMed Link: 32154731
Variant Present in the following documents:
  • hcg-13-e002725-s001.pdf
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs34042070
PubMed Link: 23555291
Variant Present in the following documents:
  • pgen.1003379.s009.pdf
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Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

Nature Genetics
Kettunen, Johannes J; Tukiainen, Taru T; Sarin, Antti-Pekka AP; Ortega-Alonso, Alfredo A; Tikkanen, Emmi E; Lyytikäinen, Leo-Pekka LP; Kangas, Antti J AJ; Soininen, Pasi P; Würtz, Peter P; Silander, Kaisa K; Dick, Danielle M DM; Rose, Richard J RJ; Savolainen, Markku J MJ; Viikari, Jorma J; Kähönen, Mika M; Lehtimäki, Terho T; Pietiläinen, Kirsi H KH; Inouye, Michael M; McCarthy, Mark I MI; Jula, Antti A; Eriksson, Johan J; Raitakari, Olli T OT; Salomaa, Veikko V; Kaprio, Jaakko J; Järvelin, Marjo-Riitta MR; Peltonen, Leena L; Perola, Markus M; Freimer, Nelson B NB; Ala-Korpela, Mika M; Palotie, Aarno A; Ripatti, Samuli S
Publication Date: 2012-01-29

Variant appearance in text: rs34042070
PubMed Link: 22286219
Variant Present in the following documents:
  • Main text
View BVdb publication page