MYRF c.3016+162A>G

Variant ID: 11-61549458-A-G

NM_001127392.1(MYRF):c.3016+162A>G

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs174534
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs174534
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Investigation of gene-gene interactions in cardiac traits and serum fatty acid levels in the LURIC Health Study.

Plos One
Zhou, Jiayan J; Passero, Kristin K; Palmiero, Nicole E NE; Müller-Myhsok, Bertram B; Kleber, Marcus E ME; Maerz, Winfried W; Hall, Molly A MA
Publication Date: 2020

Variant appearance in text: rs174534
PubMed Link: 32915819
Variant Present in the following documents:
  • Main text
  • pone.0238304.pdf
View BVdb publication page



Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities.

Nature Communications
Fadason, Tayaza T; Schierding, William W; Lumley, Thomas T; O'Sullivan, Justin M JM
Publication Date: 2018-12-05

Variant appearance in text: rs174534
PubMed Link: 30518762
Variant Present in the following documents:
  • 41467_2018_Article_7692.pdf
View BVdb publication page



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: MYRF: 3016+162A>G; rs174534
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Epigenome wide association study of SNP-CpG interactions on changes in triglyceride levels after pharmaceutical intervention: a GAW20 analysis.

Bmc Proceedings
Veenstra, Jenna J; Kalsbeek, Anya A; Koster, Karissa K; Ryder, Nathan N; Bos, Abbey A; Huisman, Jordan J; VanderBerg, Lucas L; VanderWoude, Jason J; Tintle, Nathan L NL
Publication Date: 2018

Variant appearance in text: rs174534
PubMed Link: 30275900
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tissue-specific impact of FADS cluster variants on FADS1 and FADS2 gene expression.

Plos One
Reynolds, Lindsay M LM; Howard, Timothy D TD; Ruczinski, Ingo I; Kanchan, Kanika K; Seeds, Michael C MC; Mathias, Rasika A RA; Chilton, Floyd H FH
Publication Date: 2018

Variant appearance in text: rs174534
PubMed Link: 29590160
Variant Present in the following documents:
  • Main text
  • pone.0194610.pdf
View BVdb publication page



A systematic heritability analysis of the human whole blood transcriptome.

Human Genetics
Huan, Tianxiao T; Liu, Chunyu C; Joehanes, Roby R; Zhang, Xiaoling X; Chen, Brian H BH; Johnson, Andrew D AD; Yao, Chen C; Courchesne, Paul P; O'Donnell, Christopher J CJ; Munson, Peter J PJ; Levy, Daniel D
Publication Date: 2015-03

Variant appearance in text: rs174534
PubMed Link: 25585846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

Nature Genetics
Zhang, Ben B; Jia, Wei-Hua WH; Matsuda, Koichi K; Kweon, Sun-Seog SS; Matsuo, Keitaro K; Xiang, Yong-Bing YB; Shin, Aesun A; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Cai, Qiuyin Q; Long, Jirong J; Shi, Jiajun J; Wen, Wanqing W; Yang, Gong G; Zhang, Yanfeng Y; Li, Chun C; Li, Bingshan B; Guo, Yan Y; Ren, Zefang Z; Ji, Bu-Tian BT; Pan, Zhi-Zhong ZZ; Takahashi, Atsushi A; Shin, Min-Ho MH; Matsuda, Fumihiko F; Gao, Yu-Tang YT; Oh, Jae Hwan JH; Kim, Soriul S; Ahn, Yoon-Ok YO; , ; Chan, Andrew T AT; Chang-Claude, Jenny J; Slattery, Martha L ML; , ; Gruber, Stephen B SB; Schumacher, Fredrick R FR; Stenzel, Stephanie L SL; , ; Casey, Graham G; Kim, Hyeong-Rok HR; Jeong, Jin-Young JY; Park, Ji Won JW; Li, Hong-Lan HL; Hosono, Satoyo S; Cho, Sang-Hee SH; Kubo, Michiaki M; Shu, Xiao-Ou XO; Zeng, Yi-Xin YX; Zheng, Wei W
Publication Date: 2014-06

Variant appearance in text: rs174534
PubMed Link: 24836286
Variant Present in the following documents:
  • NIHMS588441-supplement-1.pdf
View BVdb publication page



Candidate gene study of macular response to supplemental lutein and zeaxanthin.

Experimental Eye Research
Yonova-Doing, Ekaterina E; Hysi, Pirro G PG; Venturini, Cristina C; Williams, Katie M KM; Nag, Abhishek A; Beatty, Stephen S; Liew, S H Melissa SH; Gilbert, Clare E CE; Hammond, Christopher J CJ
Publication Date: 2013-10

Variant appearance in text: rs174534
PubMed Link: 23891863
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic determinants of macular pigments in women of the Carotenoids in Age-Related Eye Disease Study.

Investigative Ophthalmology & Visual Science
Meyers, Kristin J KJ; Johnson, Elizabeth J EJ; Bernstein, Paul S PS; Iyengar, Sudha K SK; Engelman, Corinne D CD; Karki, Chitra K CK; Liu, Zhe Z; Igo, Robert P RP; Truitt, Barbara B; Klein, Michael L ML; Snodderly, D Max DM; Blodi, Barbara A BA; Gehrs, Karen M KM; Sarto, Gloria E GE; Wallace, Robert B RB; Robinson, Jennifer J; LeBlanc, Erin S ES; Hageman, Gregory G; Tinker, Lesley L; Mares, Julie A JA
Publication Date: 2013-03-28

Variant appearance in text: rs174534
PubMed Link: 23404124
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of FADS genetic variants on ω6 polyunsaturated fatty acid metabolism in African Americans.

Bmc Genetics
Mathias, Rasika A RA; Sergeant, Susan S; Ruczinski, Ingo I; Torgerson, Dara G DG; Hugenschmidt, Christina E CE; Kubala, Meghan M; Vaidya, Dhananjay D; Suktitipat, Bhoom B; Ziegler, Julie T JT; Ivester, Priscilla P; Case, Douglas D; Yanek, Lisa R LR; Freedman, Barry I BI; Rudock, Megan E ME; Barnes, Kathleen C KC; Langefeld, Carl D CD; Becker, Lewis C LC; Bowden, Donald W DW; Becker, Diane M DM; Chilton, Floyd H FH
Publication Date: 2011-05-20

Variant appearance in text: rs174534
PubMed Link: 21599946
Variant Present in the following documents:
  • Main text
  • 1471-2156-12-50.pdf
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Genomic dissection of population substructure of Han Chinese and its implication in association studies.

American Journal Of Human Genetics
Xu, Shuhua S; Yin, Xianyong X; Li, Shilin S; Jin, Wenfei W; Lou, Haiyi H; Yang, Ling L; Gong, Xiaohong X; Wang, Hongyan H; Shen, Yiping Y; Pan, Xuedong X; He, Yungang Y; Yang, Yajun Y; Wang, Yi Y; Fu, Wenqing W; An, Yu Y; Wang, Jiucun J; Tan, Jingze J; Qian, Ji J; Chen, Xiaoli X; Zhang, Xin X; Sun, Yangfei Y; Zhang, Xuejun X; Wu, Bailin B; Jin, Li L
Publication Date: 2009-12

Variant appearance in text: rs174534
PubMed Link: 19944404
Variant Present in the following documents:
  • Main text
View BVdb publication page