Variant ID: 12-111350655-A-G

NM_000432.3(MYL2):c.402+245T>C

This variant was identified in 17 publications




Publications:


Identifying Interactions between Dietary Sodium, Potassium, Sodium-Potassium Ratios, and FGF5 rs16998073 Variants and Their Associated Risk for Hypertension in Korean Adults.

Nutrients
H Jeong, HS Jin, SS Kim, D Shin
Publication Date: 2020-07-17

Variant appearance in text: rs3782889
PubMed Link: 32709000
Variant Present in the following documents:
  • Main text
View BVdb publication page



A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in southern Chinese men.

Bmc Genomics
Y Hu, A Tan, L Yu, C Hou, H Kuang, Q Wu, J Su, Q Zhou, Y Zhu, C Zhang, W Wei, L Li, W Li, Y Huang, H Huang, X Xie, T Lu, H Zhang, X Yang, Y Gao, T Li, Y Jiang, Z Mo
Publication Date: 2019-12-16

Variant appearance in text: rs3782889
PubMed Link: 31842750
Variant Present in the following documents:
  • 12864_2019_6363_MOESM9_ESM.docx
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Y Wang, JG Wang
Publication Date: 2019-04

Variant appearance in text: rs3782889
PubMed Link: 31049317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-block Analysis of Genomic Data Using Generalized Canonical Correlation Analysis.

Genomics & Informatics
I Jun, W Choi, M Park
Publication Date: 2018-12

Variant appearance in text: rs3782889
PubMed Link: 30602094
Variant Present in the following documents:
  • Main text
View BVdb publication page



LNK deficiency promotes acute aortic dissection and rupture.

Jci Insight
F Laroumanie, A Korneva, MR Bersi, MR Alexander, L Xiao, X Zhong, JP Van Beusecum, Y Chen, MA Saleh, WG McMaster, KA Gavulic, BL Dale, S Zhao, Y Guo, Y Shyr, DS Perrien, NJ Cox, JA Curci, JD Humphrey, MS Madhur
Publication Date: 2018-10-18

Variant appearance in text: rs3782889
PubMed Link: 30333305
Variant Present in the following documents:
  • jciinsight-3-122558-s067.pdf
View BVdb publication page



Alcohol Dehydrogenases, Aldehyde Dehydrogenases, and Alcohol Use Disorders: A Critical Review.

Alcoholism, Clinical And Experimental Research
HJ Edenberg, JN McClintick
Publication Date: 2018-12

Variant appearance in text: rs3782889
PubMed Link: 30320893
Variant Present in the following documents:
  • NIHMS993146-supplement-Supp_TableS2.pdf
View BVdb publication page



New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.

Scientific Reports
HS Lee, Y Kim, T Park
Publication Date: 2018-04-09

Variant appearance in text: rs3782889
PubMed Link: 29632305
Variant Present in the following documents:
  • 41598_2018_23074_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports
NBY Tsui, G Cheng, T Chung, CWK Lam, A Yee, PKC Chung, TK Kwan, E Ko, D He, WT Wong, JYN Lau, LT Lau, M Fok
Publication Date: 2018-01-30

Variant appearance in text: rs3782889
PubMed Link: 29382849
Variant Present in the following documents:
  • 41598_2017_19017_MOESM1_ESM.pdf
View BVdb publication page



Genome-wide Association Study of Idiopathic Osteonecrosis of the Femoral Head.

Scientific Reports
Y Sakamoto, T Yamamoto, N Sugano, D Takahashi, T Watanabe, T Atsumi, J Nakamura, Y Hasegawa, K Akashi, I Narita, T Miyamoto, T Takeuchi, K Ikari, K Amano, A Fujie, T Kubo, Y Tada, A Kaneuji, H Nakamura, T Miyamura, T Kabata, K Yamaji, T Okawa, A Sudo, K Ohzono, Y Tanaka, Y Yasunaga, S Matsuda, Y Imai, , M Akiyama, M Kubo, Y Kamatani, Y Iwamoto, S Ikegawa
Publication Date: 2017-11-08

Variant appearance in text: rs3782889
PubMed Link: 29118346
Variant Present in the following documents:
  • 41598_2017_14778_MOESM1_ESM.pdf
View BVdb publication page



Risk Prediction Using Genome-Wide Association Studies on Type 2 Diabetes.

Genomics & Informatics
S Choi, S Bae, T Park
Publication Date: 2016-12

Variant appearance in text: rs3782889
PubMed Link: 28154504
Variant Present in the following documents:
  • gni-14-138-s001.pdf
View BVdb publication page



Bipartite Community Structure of eQTLs.

Plos Computational Biology
J Platig, PJ Castaldi, D DeMeo, J Quackenbush
Publication Date: 2016-09

Variant appearance in text: rs3782889
PubMed Link: 27618581
Variant Present in the following documents:
  • pcbi.1005033.s013.xlsx
View BVdb publication page



Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.

Scientific Reports
M Sakiyama, H Matsuo, H Nakaoka, K Yamamoto, A Nakayama, T Nakamura, S Kawai, R Okada, H Ooyama, T Shimizu, N Shinomiya
Publication Date: 2016-05-16

Variant appearance in text: rs3782889
PubMed Link: 27181629
Variant Present in the following documents:
  • srep25360-s1.doc
View BVdb publication page



Burden of disease variants in participants of the Long Life Family Study.

Aging
M Stevenson, H Bae, N Schupf, S Andersen, Q Zhang, T Perls, P Sebastiani
Publication Date: 2015-02

Variant appearance in text: rs3782889
PubMed Link: 25664523
Variant Present in the following documents:
  • aging-07-0123-s001.docx
View BVdb publication page



Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Annals Of The Rheumatic Diseases
H Matsuo, K Yamamoto, H Nakaoka, A Nakayama, M Sakiyama, T Chiba, A Takahashi, T Nakamura, H Nakashima, Y Takada, I Danjoh, S Shimizu, J Abe, Y Kawamura, S Terashige, H Ogata, S Tatsukawa, G Yin, R Okada, E Morita, M Naito, A Tokumasu, H Onoue, K Iwaya, T Ito, T Takada, K Inoue, Y Kato, Y Nakamura, Y Sakurai, H Suzuki, Y Kanai, T Hosoya, N Hamajima, I Inoue, M Kubo, K Ichida, H Ooyama, T Shimizu, N Shinomiya
Publication Date: 2016-04

Variant appearance in text: rs3782889
PubMed Link: 25646370
Variant Present in the following documents:
  • annrheumdis-2014-206191-s1.pdf
View BVdb publication page



On the analysis of a repeated measure design in genome-wide association analysis.

International Journal Of Environmental Research And Public Health
Y Lee, S Park, S Moon, J Lee, RC Elston, W Lee, S Won
Publication Date: 2014-11-28

Variant appearance in text: rs3782889
PubMed Link: 25464127
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study of behavioral disinhibition.

Behavior Genetics
M McGue, Y Zhang, MB Miller, S Basu, S Vrieze, B Hicks, S Malone, WS Oetting, WG Iacono
Publication Date: 2013-09

Variant appearance in text: rs3782889
PubMed Link: 23942779
Variant Present in the following documents:
  • NIHMS448401-supplement-Supplemental_materials.pdf
View BVdb publication page



Genome-wide association study of coronary artery disease in the Japanese.

European Journal Of Human Genetics : Ejhg
F Takeuchi, M Yokota, K Yamamoto, E Nakashima, T Katsuya, H Asano, M Isono, T Nabika, T Sugiyama, A Fujioka, N Awata, K Ohnaka, M Nakatochi, H Kitajima, H Rakugi, J Nakamura, T Ohkubo, Y Imai, K Shimamoto, Y Yamori, S Yamaguchi, S Kobayashi, R Takayanagi, T Ogihara, N Kato
Publication Date: 2012-03

Variant appearance in text: rs3782889
PubMed Link: 21971053
Variant Present in the following documents:
  • ejhg2011184x1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000228841.8 c.402+245T>C - intron_variant - 6/6
ENST00000548438.1 c.360+245T>C - intron_variant - 5/5
NM_000432.3 c.402+245T>C - intron_variant - 6/6