Variant ID: 12-111333622-T-C

NM_152591.1(CCDC63):c.1149+2668T>C

This variant was identified in 18 publications




Publications:


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: rs10849915
PubMed Link: 31842750
Variant Present in the following documents:
  • 12864_2019_6363_MOESM9_ESM.docx
View BVdb publication page



Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Biomedical Reports
Y Yamada, Y Yasukochi, K Kato, M Oguri, H Horibe, T Fujimaki, I Takeuchi, J Sakuma
Publication Date: 2018-11

Variant appearance in text: rs10849915
PubMed Link: 30402224
Variant Present in the following documents:
  • Main text
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: rs10849915
PubMed Link: 30320893
Variant Present in the following documents:
  • NIHMS993146-supplement-Supp_TableS2.pdf
View BVdb publication page



Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.

International Journal Of Molecular Medicine
Y Yamada, K Kato, M Oguri, H Horibe, T Fujimaki, Y Yasukochi, I Takeuchi, J Sakuma
Publication Date: 2018-11

Variant appearance in text: rs10849915
PubMed Link: 30226566
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of four genes as novel susceptibility loci for early-onset type 2 diabetes mellitus, metabolic syndrome, or hyperuricemia.

Biomedical Reports
Y Yamada, K Kato, M Oguri, H Horibe, T Fujimaki, Y Yasukochi, I Takeuchi, J Sakuma
Publication Date: 2018-07

Variant appearance in text: rs10849915
PubMed Link: 29930802
Variant Present in the following documents:
  • Main text
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: rs10849915
PubMed Link: 29632305
Variant Present in the following documents:
  • 41598_2018_23074_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

Molecular Genetics And Genomics : Mgg
Y Yasukochi, J Sakuma, I Takeuchi, K Kato, M Oguri, T Fujimaki, H Horibe, Y Yamada
Publication Date: 2018-04

Variant appearance in text: rs10849915
PubMed Link: 29124443
Variant Present in the following documents:
  • 438_2017_1394_MOESM4_ESM.pdf
  • 438_2017_1394_MOESM6_ESM.pdf
  • 438_2017_1394_MOESM7_ESM.xlsx
View BVdb publication page



Identification of polymorphisms in 12q24.1, ACAD10, and BRAP as novel genetic determinants of blood pressure in Japanese by exome-wide association studies.

Oncotarget
Y Yamada, J Sakuma, I Takeuchi, Y Yasukochi, K Kato, M Oguri, T Fujimaki, H Horibe, M Muramatsu, M Sawabe, Y Fujiwara, Y Taniguchi, S Obuchi, H Kawai, S Shinkai, S Mori, T Arai, M Tanaka
Publication Date: 2017-06-27

Variant appearance in text: rs10849915
PubMed Link: 28562329
Variant Present in the following documents:
  • Main text
  • oncotarget-08-43068-s002.docx
View BVdb publication page



Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study.

Molecular Psychiatry
E Jorgenson, KK Thai, TJ Hoffmann, LC Sakoda, MN Kvale, Y Banda, C Schaefer, N Risch, J Mertens, C Weisner, H Choquet
Publication Date: 2017-09

Variant appearance in text: rs10849915
PubMed Link: 28485404
Variant Present in the following documents:
  • Main text
  • NIHMS863512-supplement-1.docx
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: rs10849915
PubMed Link: 28154504
Variant Present in the following documents:
  • gni-14-138-s001.pdf
View BVdb publication page



Exploration of a Polygenic Risk Score for Alcohol Consumption: A Longitudinal Analysis from the ALSPAC Cohort.

Plos One
M Taylor, AJ Simpkin, PC Haycock, F Dudbridge, L Zuccolo
Publication Date: 2016

Variant appearance in text: rs10849915
PubMed Link: 27902751
Variant Present in the following documents:
  • pone.0167360.s003.docx
  • pone.0167360.s004.docx
  • pone.0167360.s005.docx
  • pone.0167360.s006.docx
  • pone.0167360.s007.docx
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: rs10849915
PubMed Link: 27181629
Variant Present in the following documents:
  • srep25360-s1.doc
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: rs10849915
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: rs10849915
PubMed Link: 25464127
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cis and trans effects of human genomic variants on gene expression.

Plos Genetics
J Bryois, A Buil, DM Evans, JP Kemp, SB Montgomery, DF Conrad, KM Ho, S Ring, M Hurles, P Deloukas, G Davey Smith, ET Dermitzakis
Publication Date: 2014-07

Variant appearance in text: rs10849915
PubMed Link: 25010687
Variant Present in the following documents:
  • pgen.1004461.s012.xlsx
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: rs10849915
PubMed Link: 23942779
Variant Present in the following documents:
  • NIHMS448401-supplement-Supplemental_materials.pdf
View BVdb publication page



Human disease-associated genetic variation impacts large intergenic non-coding RNA expression.

Plos Genetics
V Kumar, HJ Westra, J Karjalainen, DV Zhernakova, T Esko, B Hrdlickova, R Almeida, A Zhernakova, E Reinmaa, U V├Ása, MH Hofker, RS Fehrmann, J Fu, S Withoff, A Metspalu, L Franke, C Wijmenga
Publication Date: 2013

Variant appearance in text: rs10849915
PubMed Link: 23341781
Variant Present in the following documents:
  • Main text
  • pgen.1003201.s012.xlsx
View BVdb publication page



Pathway analysis for genome-wide association study of basal cell carcinoma of the skin.

Plos One
M Zhang, L Liang, M Xu, AA Qureshi, J Han
Publication Date: 2011

Variant appearance in text: rs10849915
PubMed Link: 21829505
Variant Present in the following documents:
  • pone.0022760.s004.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000308208.5 c.1149+2668T>C - intron_variant - 9/11
ENST00000545036.1 c.1029+2668T>C - intron_variant - 8/10
ENST00000552694.1 c.912+2668T>C - intron_variant - 7/9
NM_001286243.2 c.1029+2668T>C - intron_variant - 8/10
NM_001286244.2 c.912+2668T>C - intron_variant - 7/9
NM_152591.3 c.1149+2668T>C - intron_variant - 9/11