COL8A2 c.-16-6061C>T

Variant ID: 1-36571920-G-A

NM_005202.2(COL8A2):c.-16-6061C>T

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs96067
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses.

Biodata Mining
Zhang, Jing J; Wu, Dan D; Dai, Yiqin Y; Xu, Jianjiang J
Publication Date: 2018

Variant appearance in text: rs96067
PubMed Link: 30127857
Variant Present in the following documents:
  • Main text
  • 13040_2018_Article_179.pdf
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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Nature Communications
Iglesias, Adriana I AI; Mishra, Aniket A; Vitart, Veronique V; Bykhovskaya, Yelena Y; Höhn, René R; Springelkamp, Henriët H; Cuellar-Partida, Gabriel G; Gharahkhani, Puya P; Bailey, Jessica N Cooke JNC; Willoughby, Colin E CE; Li, Xiaohui X; Yazar, Seyhan S; Nag, Abhishek A; Khawaja, Anthony P AP; Polašek, Ozren O; Siscovick, David D; Mitchell, Paul P; Tham, Yih Chung YC; Haines, Jonathan L JL; Kearns, Lisa S LS; Hayward, Caroline C; Shi, Yuan Y; van Leeuwen, Elisabeth M EM; Taylor, Kent D KD; , ; Bonnemaijer, Pieter P; Rotter, Jerome I JI; Martin, Nicholas G NG; Zeller, Tanja T; Mills, Richard A RA; Souzeau, Emmanuelle E; Staffieri, Sandra E SE; Jonas, Jost B JB; Schmidtmann, Irene I; Boutin, Thibaud T; Kang, Jae H JH; Lucas, Sionne E M SEM; Wong, Tien Yin TY; Beutel, Manfred E ME; Wilson, James F JF; , ; , ; Uitterlinden, André G AG; Vithana, Eranga N EN; Foster, Paul J PJ; Hysi, Pirro G PG; Hewitt, Alex W AW; Khor, Chiea Chuen CC; Pasquale, Louis R LR; Montgomery, Grant W GW; Klaver, Caroline C W CCW; Aung, Tin T; Pfeiffer, Norbert N; Mackey, David A DA; Hammond, Christopher J CJ; Cheng, Ching-Yu CY; Craig, Jamie E JE; Rabinowitz, Yaron S YS; Wiggs, Janey L JL; Burdon, Kathryn P KP; van Duijn, Cornelia M CM; MacGregor, Stuart S
Publication Date: 2018-05-14

Variant appearance in text: rs96067
PubMed Link: 29760442
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos.

Human Molecular Genetics
Gao, Xiaoyi X; Nannini, Drew R DR; Corrao, Kristen K; Torres, Mina M; Chen, Yii-Der I YI; Fan, Bao J BJ; Wiggs, Janey L JL; , ; Taylor, Kent D KD; Gauderman, W James WJ; Rotter, Jerome I JI; Varma, Rohit R
Publication Date: 2016-11-15

Variant appearance in text: rs96067
PubMed Link: 28171582
Variant Present in the following documents:
  • Main text
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An Updated Review on the Genetics of Primary Open Angle Glaucoma.

International Journal Of Molecular Sciences
Abu-Amero, Khaled K; Kondkar, Altaf A AA; Chalam, Kakarla V KV
Publication Date: 2015-12-04

Variant appearance in text: rs96067
PubMed Link: 26690118
Variant Present in the following documents:
  • Main text
  • ijms-16-26135.pdf
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Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses.

Scientific Reports
Chen, Geng G; Yu, Dianke D; Chen, Jiwei J; Cao, Ruifang R; Yang, Juan J; Wang, Huan H; Ji, Xiangjun X; Ning, Baitang B; Shi, Tieliu T
Publication Date: 2015-03-30

Variant appearance in text: rs96067
PubMed Link: 25819875
Variant Present in the following documents:
  • srep09453-s1.pdf
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Combined genotype and haplotype tests for region-based association studies.

Bmc Genomics
Zakharov, Sergii S; Wong, Tien Yin TY; Aung, Tin T; Vithana, Eranga Nishanthie EN; Khor, Chiea Chuen CC; Salim, Agus A; Thalamuthu, Anbupalam A
Publication Date: 2013-08-21

Variant appearance in text: rs96067
PubMed Link: 23964661
Variant Present in the following documents:
  • Main text
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A genome-wide association study of central corneal thickness in Latinos.

Investigative Ophthalmology & Visual Science
Gao, Xiaoyi X; Gauderman, W James WJ; Liu, Yutao Y; Marjoram, Paul P; Torres, Mina M; Haritunians, Talin T; Kuo, Jane Z JZ; Chen, Yii-Der I YD; Allingham, R Rand RR; Hauser, Michael A MA; Taylor, Kent D KD; Rotter, Jerome I JI; Varma, Rohit R
Publication Date: 2013-04-01

Variant appearance in text: rs96067
PubMed Link: 23493294
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Nature Genetics
Lu, Yi Y; Vitart, Veronique V; Burdon, Kathryn P KP; Khor, Chiea Chuen CC; Bykhovskaya, Yelena Y; Mirshahi, Alireza A; Hewitt, Alex W AW; Koehn, Demelza D; Hysi, Pirro G PG; Ramdas, Wishal D WD; Zeller, Tanja T; Vithana, Eranga N EN; Cornes, Belinda K BK; Tay, Wan-Ting WT; Tai, E Shyong ES; Cheng, Ching-Yu CY; Liu, Jianjun J; Foo, Jia-Nee JN; Saw, Seang Mei SM; Thorleifsson, Gudmar G; Stefansson, Kari K; Dimasi, David P DP; Mills, Richard A RA; Mountain, Jenny J; Ang, Wei W; Hoehn, René R; Verhoeven, Virginie J M VJ; Grus, Franz F; Wolfs, Roger R; Castagne, Raphaële R; Lackner, Karl J KJ; Springelkamp, Henriët H; Yang, Jian J; Jonasson, Fridbert F; Leung, Dexter Y L DY; Chen, Li J LJ; Tham, Clement C Y CC; Rudan, Igor I; Vatavuk, Zoran Z; Hayward, Caroline C; Gibson, Jane J; Cree, Angela J AJ; MacLeod, Alex A; Ennis, Sarah S; Polasek, Ozren O; Campbell, Harry H; Wilson, James F JF; Viswanathan, Ananth C AC; Fleck, Brian B; Li, Xiaohui X; Siscovick, David D; Taylor, Kent D KD; Rotter, Jerome I JI; Yazar, Seyhan S; Ulmer, Megan M; Li, Jun J; Yaspan, Brian L BL; Ozel, Ayse B AB; Richards, Julia E JE; Moroi, Sayoko E SE; Haines, Jonathan L JL; Kang, Jae H JH; Pasquale, Louis R LR; Allingham, R Rand RR; Ashley-Koch, Allison A; , ; Mitchell, Paul P; Wang, Jie Jin JJ; Wright, Alan F AF; Pennell, Craig C; Spector, Timothy D TD; Young, Terri L TL; Klaver, Caroline C W CC; Martin, Nicholas G NG; Montgomery, Grant W GW; Anderson, Michael G MG; Aung, Tin T; Willoughby, Colin E CE; Wiggs, Janey L JL; Pang, Chi P CP; Thorsteinsdottir, Unnur U; Lotery, Andrew J AJ; Hammond, Christopher J CJ; van Duijn, Cornelia M CM; Hauser, Michael A MA; Rabinowitz, Yaron S YS; Pfeiffer, Norbert N; Mackey, David A DA; Craig, Jamie E JE; Macgregor, Stuart S; Wong, Tien Y TY
Publication Date: 2013-02

Variant appearance in text: rs96067
PubMed Link: 23291589
Variant Present in the following documents:
  • Main text
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Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.

Plos One
Igo, Robert P RP; Kopplin, Laura J LJ; Joseph, Peronne P; Truitt, Barbara B; Fondran, Jeremy J; Bardenstein, David D; Aldave, Anthony J AJ; Croasdale, Christopher R CR; Price, Marianne O MO; Rosenwasser, Miriam M; Lass, Jonathan H JH; Iyengar, Sudha K SK; ,
Publication Date: 2012

Variant appearance in text: rs96067
PubMed Link: 23110055
Variant Present in the following documents:
  • Main text
  • pone.0046742.pdf
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Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Investigative Ophthalmology & Visual Science
Ulmer, Megan M; Li, Jun J; Yaspan, Brian L BL; Ozel, Ayse Bilge AB; Richards, Julia E JE; Moroi, Sayoko E SE; Hawthorne, Felicia F; Budenz, Donald L DL; Friedman, David S DS; Gaasterland, Douglas D; Haines, Jonathan J; Kang, Jae H JH; Lee, Richard R; Lichter, Paul P; Liu, Yutao Y; Pasquale, Louis R LR; Pericak-Vance, Margaret M; Realini, Anthony A; Schuman, Joel S JS; Singh, Kuldev K; Vollrath, Douglas D; Weinreb, Robert R; Wollstein, Gadi G; Zack, Donald J DJ; Zhang, Kang K; Young, Terri T; Allingham, R Rand RR; Wiggs, Janey L JL; Ashley-Koch, Allison A; Hauser, Michael A MA
Publication Date: 2012-07-03

Variant appearance in text: rs96067
PubMed Link: 22661486
Variant Present in the following documents:
  • Main text
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Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.

Eye (London, England)
Gemenetzi, M M; Yang, Y Y; Lotery, A J AJ
Publication Date: 2012-03

Variant appearance in text: rs96067
PubMed Link: 22173078
Variant Present in the following documents:
  • Main text
View BVdb publication page