GC c.1395+1303C>T

Variant ID: 4-72616932-G-A

NM_000583.3(GC):c.1395+1303C>T

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Assessment of causal associations between uric acid and 25-hydroxyvitamin D levels.

Frontiers In Endocrinology
Han, Yingdong Y; Zhang, Yun Y; Zeng, Xuejun X
Publication Date: 2022

Variant appearance in text: rs222040
PubMed Link: 36583002
Variant Present in the following documents:
  • DataSheet_1.pdf
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Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.

Nutrients
Krasniqi, Ermira E; Boshnjaku, Arben A; Wagner, Karl-Heinz KH; Wessner, Barbara B
Publication Date: 2021-09-04

Variant appearance in text: rs222040
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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Vitamin D pathway-related gene polymorphisms and their association with metabolic diseases: A literature review.

Journal Of Diabetes And Metabolic Disorders
Alathari, Buthaina E BE; Sabta, Aji A AA; Kalpana, Chinnappan A CA; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2020-12

Variant appearance in text: rs222040
PubMed Link: 33553043
Variant Present in the following documents:
  • Main text
  • 40200_2020_Article_561.pdf
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Association of vitamin D gene polymorphisms in children with asthma - A systematic review.

Heliyon
Ashok, Narmada N; Kirubakaran, Richard R; Saraswathy, Radha R
Publication Date: 2020-09

Variant appearance in text: rs222040
PubMed Link: 32939414
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes.

Diabetes Care
Tapia, German G; Mårild, Karl K; Dahl, Sandra R SR; Lund-Blix, Nicolai A NA; Viken, Marte K MK; Lie, Benedicte A BA; Njølstad, Pål R PR; Joner, Geir G; Skrivarhaug, Torild T; Cohen, Arieh S AS; Størdal, Ketil K; Stene, Lars C LC
Publication Date: 2019-04

Variant appearance in text: rs222040
PubMed Link: 30692241
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

Nature Communications
Jiang, Xia X; O'Reilly, Paul F PF; Aschard, Hugues H; Hsu, Yi-Hsiang YH; Richards, J Brent JB; Dupuis, Josée J; Ingelsson, Erik E; Karasik, David D; Pilz, Stefan S; Berry, Diane D; Kestenbaum, Bryan B; Zheng, Jusheng J; Luan, Jianan J; Sofianopoulou, Eleni E; Streeten, Elizabeth A EA; Albanes, Demetrius D; Lutsey, Pamela L PL; Yao, Lu L; Tang, Weihong W; Econs, Michael J MJ; Wallaschofski, Henri H; Völzke, Henry H; Zhou, Ang A; Power, Chris C; McCarthy, Mark I MI; Michos, Erin D ED; Boerwinkle, Eric E; Weinstein, Stephanie J SJ; Freedman, Neal D ND; Huang, Wen-Yi WY; Van Schoor, Natasja M NM; van der Velde, Nathalie N; Groot, Lisette C P G M de LCPGM; Enneman, Anke A; Cupples, L Adrienne LA; Booth, Sarah L SL; Vasan, Ramachandran S RS; Liu, Ching-Ti CT; Zhou, Yanhua Y; Ripatti, Samuli S; Ohlsson, Claes C; Vandenput, Liesbeth L; Lorentzon, Mattias M; Eriksson, Johan G JG; Shea, M Kyla MK; Houston, Denise K DK; Kritchevsky, Stephen B SB; Liu, Yongmei Y; Lohman, Kurt K KK; Ferrucci, Luigi L; Peacock, Munro M; Gieger, Christian C; Beekman, Marian M; Slagboom, Eline E; Deelen, Joris J; Heemst, Diana van DV; Kleber, Marcus E ME; März, Winfried W; de Boer, Ian H IH; Wood, Alexis C AC; Rotter, Jerome I JI; Rich, Stephen S SS; Robinson-Cohen, Cassianne C; den Heijer, Martin M; Jarvelin, Marjo-Riitta MR; Cavadino, Alana A; Joshi, Peter K PK; Wilson, James F JF; Hayward, Caroline C; Lind, Lars L; Michaëlsson, Karl K; Trompet, Stella S; Zillikens, M Carola MC; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Broer, Linda L; Zgaga, Lina L; Campbell, Harry H; Theodoratou, Evropi E; Farrington, Susan M SM; Timofeeva, Maria M; Dunlop, Malcolm G MG; Valdes, Ana M AM; Tikkanen, Emmi E; Lehtimäki, Terho T; Lyytikäinen, Leo-Pekka LP; Kähönen, Mika M; Raitakari, Olli T OT; Mikkilä, Vera V; Ikram, M Arfan MA; Sattar, Naveed N; Jukema, J Wouter JW; Wareham, Nicholas J NJ; Langenberg, Claudia C; Forouhi, Nita G NG; Gundersen, Thomas E TE; Khaw, Kay-Tee KT; Butterworth, Adam S AS; Danesh, John J; Spector, Timothy T; Wang, Thomas J TJ; Hyppönen, Elina E; Kraft, Peter P; Kiel, Douglas P DP
Publication Date: 2018-01-17

Variant appearance in text: rs222040
PubMed Link: 29343764
Variant Present in the following documents:
  • 41467_2017_2662_MOESM1_ESM.pdf
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Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.

The Journal Of Clinical Endocrinology And Metabolism
Hong, Jaeyoung J; Hatchell, Kathryn E KE; Bradfield, Jonathan P JP; Bjonnes, Andrew A; Chesi, Alessandra A; Lai, Chao-Qiang CQ; Langefeld, Carl D CD; Lu, Lingyi L; Lu, Yingchang Y; Lutsey, Pamela L PL; Musani, Solomon K SK; Nalls, Mike A MA; Robinson-Cohen, Cassianne C; Roizen, Jeffery D JD; Saxena, Richa R; Tucker, Katherine L KL; Ziegler, Julie T JT; Arking, Dan E DE; Bis, Joshua C JC; Boerwinkle, Eric E; Bottinger, Erwin P EP; Bowden, Donald W DW; Gilsanz, Vicente V; Houston, Denise K DK; Kalkwarf, Heidi J HJ; Kelly, Andrea A; Lappe, Joan M JM; Liu, Yongmei Y; Michos, Erin D ED; Oberfield, Sharon E SE; Palmer, Nicholette D ND; Rotter, Jerome I JI; Sapkota, Bishwa B; Shepherd, John A JA; Wilson, James G JG; Basu, Saonli S; de Boer, Ian H IH; Divers, Jasmin J; Freedman, Barry I BI; Grant, Struan F A SFA; Hakanarson, Hakon H; Harris, Tamara B TB; Kestenbaum, Bryan R BR; Kritchevsky, Stephen B SB; Loos, Ruth J F RJF; Norris, Jill M JM; Norwood, Arnita F AF; Ordovas, Jose M JM; Pankow, James S JS; Psaty, Bruce M BM; Sanghera, Dharambir K DK; Wagenknecht, Lynne E LE; Zemel, Babette S BS; Meigs, James J; Dupuis, Josée J; Florez, Jose C JC; Wang, Thomas T; Liu, Ching-Ti CT; Engelman, Corinne D CD; Billings, Liana K LK
Publication Date: 2018-04-01

Variant appearance in text: rs222040
PubMed Link: 29325163
Variant Present in the following documents:
  • Main text
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Fetal and Maternal Genetic Variants Influencing Neonatal Vitamin D Status.

The Journal Of Clinical Endocrinology And Metabolism
Størdal, Ketil K; Mårild, Karl K; Tapia, German G; Haugen, Margareta M; Cohen, Arieh S AS; Lie, Benedicte A BA; Stene, Lars C LC
Publication Date: 2017-11-01

Variant appearance in text: rs222040
PubMed Link: 28938476
Variant Present in the following documents:
  • Main text
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No prognostic value added by vitamin D pathway SNPs to current prognostic system for melanoma survival.

Plos One
Luo, Li L; Orlow, Irene I; Kanetsky, Peter A PA; Thomas, Nancy E NE; Fang, Shenying S; Lee, Jeffrey E JE; Berwick, Marianne M; Lee, Ji-Hyun JH; ,
Publication Date: 2017

Variant appearance in text: rs222040
PubMed Link: 28323902
Variant Present in the following documents:
  • Main text
View BVdb publication page



SNP rs11185644 of RXRA gene is identified for dose-response variability to vitamin D3 supplementation: a randomized clinical trial.

Scientific Reports
Zhang, Mingzhi M; Zhao, Lan-Juan LJ; Zhou, Yu Y; Badr, Rhamee R; Watson, Patrice P; Ye, An A; Zhou, Boting B; Zhang, Jigang J; Deng, Hong-Wen HW; Recker, Robert R RR; Lappe, Joan M JM
Publication Date: 2017-01-12

Variant appearance in text: rs222040
PubMed Link: 28079136
Variant Present in the following documents:
  • Main text
  • srep40593.pdf
View BVdb publication page



Pesticide exposure and inherited variants in vitamin d pathway genes in relation to prostate cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Karami, Sara S; Andreotti, Gabriella G; Koutros, Stella S; Barry, Kathryn Hughes KH; Moore, Lee E LE; Han, Summer S; Hoppin, Jane A JA; Sandler, Dale P DP; Lubin, Jay H JH; Burdette, Laurie A LA; Yuenger, Jeffrey J; Yeager, Meredith M; Freeman, Laura E Beane LE; Blair, Aaron A; Alavanja, Michael C R MC
Publication Date: 2013-09

Variant appearance in text: rs222040
PubMed Link: 23833127
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants of the vitamin D binding protein gene and adverse health outcomes.

Critical Reviews In Clinical Laboratory Sciences
Malik, Suneil S; Fu, Lei L; Juras, David James DJ; Karmali, Mohamed M; Wong, Betty Y L BY; Gozdzik, Agnes A; Cole, David E C DE
Publication Date: 2013

Variant appearance in text: rs222040
PubMed Link: 23427793
Variant Present in the following documents:
  • Main text
  • LAB-50-1.pdf
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Association analyses of vitamin D-binding protein gene with compression strength index variation in Caucasian nuclear families.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa
Xu, X-H XH; Xiong, D-H DH; Liu, X-G XG; Guo, Y Y; Chen, Y Y; Zhao, J J; Recker, R R RR; Deng, H-W HW
Publication Date: 2010-01

Variant appearance in text: rs222040
PubMed Link: 19543766
Variant Present in the following documents:
  • Main text
View BVdb publication page



Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

Respiratory Research
Wjst, Matthias M; Altmüller, Janine J; Faus-Kessler, Theresia T; Braig, Christine C; Bahnweg, Margret M; André, Elisabeth E
Publication Date: 2006-04-06

Variant appearance in text: rs222040
PubMed Link: 16600026
Variant Present in the following documents:
  • Main text
  • 1465-9921-7-60.pdf
View BVdb publication page