HERC2 c.10555-2060G>A

Variant ID: 15-28410491-C-T

NM_004667.5(HERC2):c.10555-2060G>A

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Extensive set of African ancestry-informative markers (AIMs) to study ancestry and population health.

Frontiers In Genetics
Boudeau, Samantha S; Ramakodi, Meganathan P MP; Zhou, Yan Y; Liu, Jeffrey C JC; Ragin, Camille C; Kulathinal, Rob J RJ
Publication Date: 2023

Variant appearance in text: rs12916300
PubMed Link: 36911410
Variant Present in the following documents:
  • Main text
  • fgene-14-1061781.pdf
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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: rs12916300
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.

Communications Biology
Kim, Yuhree Y; Yin, Jie J; Huang, Hailiang H; Jorgenson, Eric E; Choquet, Hélène H; Asgari, Maryam M MM
Publication Date: 2022-04-21

Variant appearance in text: rs12916300
PubMed Link: 35449187
Variant Present in the following documents:
  • Main text
  • 42003_2022_3301_MOESM1_ESM.pdf
  • 42003_2022_Article_3301.pdf
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Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications Biology
Jorgenson, Eric E; Choquet, Hélène H; Yin, Jie J; Hoffmann, Thomas J TJ; Banda, Yambazi Y; Kvale, Mark N MN; Risch, Neil N; Schaefer, Catherine C; Asgari, Maryam M MM
Publication Date: 2020-12-14

Variant appearance in text: rs12916300
PubMed Link: 33318654
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1461.pdf
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Optimizing the genetic prediction of the eye and hair color for North Eurasian populations.

Bmc Genomics
Balanovska, Elena E; Lukianova, Elena E; Kagazezheva, Janet J; Maurer, Andrey A; Leybova, Natalia N; Agdzhoyan, Anastasiya A; Gorin, Igor I; Petrushenko, Valeria V; Zhabagin, Maxat M; Pylev, Vladimir V; Kostryukova, Elena E; Balanovsky, Oleg O
Publication Date: 2020-09-10

Variant appearance in text: rs12916300
PubMed Link: 32912208
Variant Present in the following documents:
  • Main text
  • 12864_2020_Article_6923.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs12916300
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Predicting target genes of non-coding regulatory variants with IRT.

Bioinformatics (Oxford, England)
Wu, Zhenqin Z; Ioannidis, Nilah M NM; Zou, James J
Publication Date: 2020-08-15

Variant appearance in text: rs12916300
PubMed Link: 32330225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex-Stratified Polygenic Risk Score Identifies Individuals at Increased Risk of Basal Cell Carcinoma.

The Journal Of Investigative Dermatology
Roberts, Michelle R MR; Sordillo, Joanne E JE; Kraft, Peter P; Asgari, Maryam M MM
Publication Date: 2020-05

Variant appearance in text: rs12916300
PubMed Link: 31682843
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.

Nature Communications
Ioannidis, Nilah M NM; Wang, Wei W; Furlotte, Nicholas A NA; Hinds, David A DA; , ; Bustamante, Carlos D CD; Jorgenson, Eric E; Asgari, Maryam M MM; Whittemore, Alice S AS
Publication Date: 2018-10-15

Variant appearance in text: rs12916300
PubMed Link: 30323283
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_6149.pdf
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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs12916300
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
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Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk.

The Journal Of Investigative Dermatology
Sordillo, Joanne E JE; Kraft, Peter P; Wu, Ann Chen AC; Asgari, Maryam M MM
Publication Date: 2018-07

Variant appearance in text: rs12916300
PubMed Link: 29452120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

Oncotarget
Hofer, Philipp P; Hagmann, Michael M; Brezina, Stefanie S; Dolejsi, Erich E; Mach, Karl K; Leeb, Gernot G; Baierl, Andreas A; Buch, Stephan S; Sutterlüty-Fall, Hedwig H; Karner-Hanusch, Judith J; Bergmann, Michael M MM; Bachleitner-Hofmann, Thomas T; Stift, Anton A; Gerger, Armin A; Rötzer, Katharina K; Karner, Josef J; Stättner, Stefan S; Waldenberger, Melanie M; Meitinger, Thomas T; Strauch, Konstantin K; Linseisen, Jakob J; Gieger, Christian C; Frommlet, Florian F; Gsur, Andrea A
Publication Date: 2017-11-17

Variant appearance in text: rs12916300
PubMed Link: 29228715
Variant Present in the following documents:
  • Main text
  • oncotarget-08-98623.pdf
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Susceptibility Loci-Associated Cutaneous Squamous Cell Carcinoma Invasiveness.

The Journal Of Investigative Dermatology
Wang, Wei W; Jorgenson, Eric E; Whittemore, Alice S AS; Asgari, Maryam M MM
Publication Date: 2018-03

Variant appearance in text: rs12916300
PubMed Link: 29054604
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.

The British Journal Of Dermatology
Wei, L L; Allain, D C DC; Bernhardt, M N MN; Gillespie, J L JL; Peters, S B SB; Iwenofu, O H OH; Nelson, H H HH; Arron, S T ST; Toland, A E AE
Publication Date: 2017-10

Variant appearance in text: rs12916300
PubMed Link: 28456133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Was ADH1B under Selection in European Populations?

American Journal Of Human Genetics
Shen, Quan-Kuan QK; Sulaiman, Xierzhatijiang X; Yao, Yong-Gang YG; Peng, Min-Sheng MS; Zhang, Ya-Ping YP
Publication Date: 2016-11-03

Variant appearance in text: rs12916300
PubMed Link: 27814524
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic analyses inform on migration events during the peopling of Eurasia.

Nature
Pagani, Luca L; Lawson, Daniel John DJ; Jagoda, Evelyn E; Mörseburg, Alexander A; Eriksson, Anders A; Mitt, Mario M; Clemente, Florian F; Hudjashov, Georgi G; DeGiorgio, Michael M; Saag, Lauri L; Wall, Jeffrey D JD; Cardona, Alexia A; Mägi, Reedik R; Wilson Sayres, Melissa A MA; Kaewert, Sarah S; Inchley, Charlotte C; Scheib, Christiana L CL; Järve, Mari M; Karmin, Monika M; Jacobs, Guy S GS; Antao, Tiago T; Iliescu, Florin Mircea FM; Kushniarevich, Alena A; Ayub, Qasim Q; Tyler-Smith, Chris C; Xue, Yali Y; Yunusbayev, Bayazit B; Tambets, Kristiina K; Mallick, Chandana Basu CB; Saag, Lehti L; Pocheshkhova, Elvira E; Andriadze, George G; Muller, Craig C; Westaway, Michael C MC; Lambert, David M DM; Zoraqi, Grigor G; Turdikulova, Shahlo S; Dalimova, Dilbar D; Sabitov, Zhaxylyk Z; Sultana, Gazi Nurun Nahar GNN; Lachance, Joseph J; Tishkoff, Sarah S; Momynaliev, Kuvat K; Isakova, Jainagul J; Damba, Larisa D LD; Gubina, Marina M; Nymadawa, Pagbajabyn P; Evseeva, Irina I; Atramentova, Lubov L; Utevska, Olga O; Ricaut, François-Xavier FX; Brucato, Nicolas N; Sudoyo, Herawati H; Letellier, Thierry T; Cox, Murray P MP; Barashkov, Nikolay A NA; Skaro, Vedrana V; Mulahasanovic, Lejla L; Primorac, Dragan D; Sahakyan, Hovhannes H; Mormina, Maru M; Eichstaedt, Christina A CA; Lichman, Daria V DV; Abdullah, Syafiq S; Chaubey, Gyaneshwer G; Wee, Joseph T S JTS; Mihailov, Evelin E; Karunas, Alexandra A; Litvinov, Sergei S; Khusainova, Rita R; Ekomasova, Natalya N; Akhmetova, Vita V; Khidiyatova, Irina I; Marjanović, Damir D; Yepiskoposyan, Levon L; Behar, Doron M DM; Balanovska, Elena E; Metspalu, Andres A; Derenko, Miroslava M; Malyarchuk, Boris B; Voevoda, Mikhail M; Fedorova, Sardana A SA; Osipova, Ludmila P LP; Lahr, Marta Mirazón MM; Gerbault, Pascale P; Leavesley, Matthew M; Migliano, Andrea Bamberg AB; Petraglia, Michael M; Balanovsky, Oleg O; Khusnutdinova, Elza K EK; Metspalu, Ene E; Thomas, Mark G MG; Manica, Andrea A; Nielsen, Rasmus R; Villems, Richard R; Willerslev, Eske E; Kivisild, Toomas T; Metspalu, Mait M
Publication Date: 2016-10-13

Variant appearance in text: rs12916300
PubMed Link: 27654910
Variant Present in the following documents:
  • NIHMS69788-supplement-Table_SI2.xlsx, sheet 34
View BVdb publication page



IRF4 Polymorphism Is Associated with Cutaneous Squamous Cell Carcinoma in Organ Transplant Recipients: A Pigment-Independent Phenomenon.

The Journal Of Investigative Dermatology
Asgari, Maryam M MM; Toland, Amanda E AE; Arron, Sarah T ST
Publication Date: 2017-01

Variant appearance in text: rs12916300
PubMed Link: 27566401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

Nature Communications
Chahal, Harvind S HS; Wu, Wenting W; Ransohoff, Katherine J KJ; Yang, Lingyao L; Hedlin, Haley H; Desai, Manisha M; Lin, Yuan Y; Dai, Hong-Ji HJ; Qureshi, Abrar A AA; Li, Wen-Qing WQ; Kraft, Peter P; Hinds, David A DA; Tang, Jean Y JY; Han, Jiali J; Sarin, Kavita Y KY
Publication Date: 2016-08-19

Variant appearance in text: rs12916300
PubMed Link: 27539887
Variant Present in the following documents:
  • Main text
  • ncomms12510.pdf
  • ncomms12510-s1.pdf
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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs12916300
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-17.pdf
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Human adaptation and population differentiation in the light of ancient genomes.

Nature Communications
Key, Felix M FM; Fu, Qiaomei Q; Romagné, Frédéric F; Lachmann, Michael M; Andrés, Aida M AM
Publication Date: 2016-03-18

Variant appearance in text: rs12916300
PubMed Link: 26988143
Variant Present in the following documents:
  • ncomms10775.pdf
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Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia.

American Journal Of Human Genetics
Galinsky, Kevin J KJ; Bhatia, Gaurav G; Loh, Po-Ru PR; Georgiev, Stoyan S; Mukherjee, Sayan S; Patterson, Nick J NJ; Price, Alkes L AL
Publication Date: 2016-03-03

Variant appearance in text: rs12916300
PubMed Link: 26924531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

The Journal Of Investigative Dermatology
Asgari, Maryam M MM; Wang, Wei W; Ioannidis, Nilah M NM; Itnyre, Jacqueline J; Hoffmann, Thomas T; Jorgenson, Eric E; Whittemore, Alice S AS
Publication Date: 2016-05

Variant appearance in text: rs12916300
PubMed Link: 26829030
Variant Present in the following documents:
  • Main text
View BVdb publication page