SLC45A2 c.889-1064A>G

Variant ID: 5-33955673-T-C

NM_016180.3(SLC45A2):c.889-1064A>G

This variant was identified in 27 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: rs35391
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs35391
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
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Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs35391
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
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A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2021-11-04

Variant appearance in text: rs35391
PubMed Link: 34737440
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2764.pdf
  • 42003_2021_2764_MOESM2_ESM.pdf
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Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Human Molecular Genetics
Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH
Publication Date: 2021-01-06

Variant appearance in text: rs35391
PubMed Link: 33410475
Variant Present in the following documents:
  • hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx, sheet 1
View BVdb publication page



Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wood, Renee P RP; Heyworth, Jane S JS; McCarthy, Nina S NS; Mauguen, Audrey A; Berwick, Marianne M; Thomas, Nancy E NE; Millward, Michael J MJ; Anton-Culver, Hoda H; Cust, Anne E AE; Dwyer, Terence T; Gallagher, Richard P RP; Gruber, Stephen B SB; Kanetsky, Peter A PA; Orlow, Irene I; Rosso, Stefano S; Moses, Eric K EK; Begg, Colin B CB; Ward, Sarah V SV
Publication Date: 2020-11

Variant appearance in text: rs35391
PubMed Link: 32856602
Variant Present in the following documents:
  • Main text
View BVdb publication page



Data on a genome-wide association study of type 2 diabetes in a Maya population.

Data In Brief
Totomoch-Serra, Armando A; Domínguez-Cruz, Miriam Givisay MG; Muñoz, María de Lourdes ML; García-Escalante, María Guadalupe MG; Burgueño, Juan J; Díaz-Badillo, Álvaro Á; Valadez-González, Nina N; Escalante, Doris Pinto DP
Publication Date: 2020-02

Variant appearance in text: rs35391
PubMed Link: 31872004
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.

The Journal Of Investigative Dermatology
Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2020-04

Variant appearance in text: rs35391
PubMed Link: 31568773
Variant Present in the following documents:
  • Main text
View BVdb publication page



A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications
Adhikari, Kaustubh K; Mendoza-Revilla, Javier J; Sohail, Anood A; Fuentes-Guajardo, Macarena M; Lampert, Jodie J; Chacón-Duque, Juan Camilo JC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Lozano, Rodrigo Barquera RB; Everardo, Paola P; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Silva de Cerqueira, Caio C CC; Hunemeier, Tábita T; Ramallo, Virginia V; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Gonzalez-José, Rolando R; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Gallo, Carla C; Poletti, Giovanni G; Bedoya, Gabriel G; Rothhammer, Francisco F; Tobin, Desmond J DJ; Fumagalli, Matteo M; Balding, David D; Ruiz-Linares, Andrés A
Publication Date: 2019-01-21

Variant appearance in text: rs35391
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
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Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Publication Date: 2018-11

Variant appearance in text: rs35391
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs35391
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
View BVdb publication page



Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.

Plos One
Wei, Wei-Qi WQ; Bastarache, Lisa A LA; Carroll, Robert J RJ; Marlo, Joy E JE; Osterman, Travis J TJ; Gamazon, Eric R ER; Cox, Nancy J NJ; Roden, Dan M DM; Denny, Joshua C JC
Publication Date: 2017

Variant appearance in text: rs35391
PubMed Link: 28686612
Variant Present in the following documents:
  • Main text
  • pone.0175508.pdf
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Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.

The British Journal Of Dermatology
Gibbs, D C DC; Ward, S V SV; Orlow, I I; Cadby, G G; Kanetsky, P A PA; Luo, L L; Busam, K J KJ; Kricker, A A; Armstrong, B K BK; Cust, A E AE; Anton-Culver, H H; Gallagher, R P RP; Zanetti, R R; Rosso, S S; Sacchetto, L L; Ollila, D W DW; Begg, C B CB; Berwick, M M; Thomas, N E NE; ,
Publication Date: 2017-11

Variant appearance in text: rs35391
PubMed Link: 28667740
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs35391
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: rs35391
PubMed Link: 26988143
Variant Present in the following documents:
  • ncomms10775.pdf
View BVdb publication page



Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Gibbs, David C DC; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Kricker, Anne A; Armstrong, Bruce K BK; Anton-Culver, Hoda H; Gruber, Stephen B SB; Marrett, Loraine D LD; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Dwyer, Terence T; Sharma, Ajay A; La Pilla, Emily E; From, Lynn L; Busam, Klaus J KJ; Cust, Anne E AE; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2015-06

Variant appearance in text: rs35391
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants associated with susceptibility to pancreatic cancer and melanoma do not reciprocally affect risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wu, Lang L; Goldstein, Alisa M AM; Yu, Kai K; Yang, Xiaohong Rose XR; Rabe, Kari G KG; Arslan, Alan A AA; Canzian, Federico F; Wolpin, Brian M BM; Stolzenberg-Solomon, Rachael R; Amundadottir, Laufey T LT; Petersen, Gloria M GM
Publication Date: 2014-06

Variant appearance in text: rs35391
PubMed Link: 24642353
Variant Present in the following documents:
  • Main text
View BVdb publication page



Update on the Epidemiology of Melanoma.

Current Dermatology Reports
Chen, Steven T ST; Geller, Alan C AC; Tsao, Hensin H
Publication Date: 2013-03-01

Variant appearance in text: rs35391
PubMed Link: 23580930
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human pigmentation genes under environmental selection.

Genome Biology
Sturm, Richard A RA; Duffy, David L DL
Publication Date: 2012-09-26

Variant appearance in text: rs35391
PubMed Link: 23110848
Variant Present in the following documents:
  • Main text
  • gb-2012-13-9-248.pdf
View BVdb publication page



Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Journal Of Dermatological Science
Hawkes, Jason E JE; Cassidy, Pamela B PB; Manga, Prashiela P; Boissy, Raymond E RE; Goldgar, David D; Cannon-Albright, Lisa L; Florell, Scott R SR; Leachman, Sancy A SA
Publication Date: 2013-01

Variant appearance in text: rs35391
PubMed Link: 23103111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

Human Molecular Genetics
Amos, Christopher I CI; Wang, Li-E LE; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Chen, Wei V WV; Fang, Shenying S; Kosoy, Roman R; Zhang, Mingfeng M; Qureshi, Abrar A AA; Vattathil, Selina S; Schacherer, Christopher W CW; Gardner, Julie M JM; Wang, Yuling Y; Bishop, D Tim DT; Barrett, Jennifer H JH; , ; MacGregor, Stuart S; Hayward, Nicholas K NK; Martin, Nicholas G NG; Duffy, David L DL; , ; Mann, Graham J GJ; Cust, Anne A; Hopper, John J; , ; Brown, Kevin M KM; Grimm, Elizabeth A EA; Xu, Yaji Y; Han, Younghun Y; Jing, Kaiyan K; McHugh, Caitlin C; Laurie, Cathy C CC; Doheny, Kim F KF; Pugh, Elizabeth W EW; Seldin, Michael F MF; Han, Jiali J; Wei, Qingyi Q
Publication Date: 2011-12-15

Variant appearance in text: rs35391
PubMed Link: 21926416
Variant Present in the following documents:
  • Main text
View BVdb publication page



A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene.

Plos One
Ibarrola-Villava, Maider M; Fernandez, Lara P LP; Alonso, Santos S; Boyano, M Dolores MD; Peña-Chilet, Maria M; Pita, Guillermo G; Aviles, Jose A JA; Mayor, Matias M; Gomez-Fernandez, Cristina C; Casado, Beatriz B; Martin-Gonzalez, Manuel M; Izagirre, Neskuts N; De la Rua, Concepcion C; Asumendi, Aintzane A; Perez-Yarza, Gorka G; Arroyo-Berdugo, Yoana Y; Boldo, Enrique E; Lozoya, Rafael R; Torrijos-Aguilar, Arantxa A; Pitarch, Ana A; Pitarch, Gerard G; Sanchez-Motilla, Jose M JM; Valcuende-Cavero, Francisca F; Tomas-Cabedo, Gloria G; Perez-Pastor, Gemma G; Diaz-Perez, Jose L JL; Gardeazabal, Jesus J; Martinez de Lizarduy, Iñigo I; Sanchez-Diez, Ana A; Valdes, Carlos C; Pizarro, Angel A; Casado, Mariano M; Carretero, Gregorio G; Botella-Estrada, Rafael R; Nagore, Eduardo E; Lazaro, Pablo P; Lluch, Ana A; Benitez, Javier J; Martinez-Cadenas, Conrado C; Ribas, Gloria G
Publication Date: 2011-04-29

Variant appearance in text: rs35391
PubMed Link: 21559390
Variant Present in the following documents:
  • Main text
  • pone.0019271.pdf
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Identification of genetic and epigenetic marks involved in population structure.

Plos One
Liu, Jingyu J; Hutchison, Kent K; Perrone-Bizzozero, Nora N; Morgan, Marilee M; Sui, Jing J; Calhoun, Vince V
Publication Date: 2010-10-07

Variant appearance in text: rs35391
PubMed Link: 20949057
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP
Publication Date: 2010-10-15

Variant appearance in text: rs35391
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
View BVdb publication page



Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics
Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J
Publication Date: 2010-06-24

Variant appearance in text: rs35391
PubMed Link: 20585627
Variant Present in the following documents:
  • pgen.1000993.s007.pdf
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Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

The Journal Of Investigative Dermatology
Duffy, David L DL; Zhao, Zhen Z ZZ; Sturm, Richard A RA; Hayward, Nicholas K NK; Martin, Nicholas G NG; Montgomery, Grant W GW
Publication Date: 2010-02

Variant appearance in text: rs35391
PubMed Link: 19710684
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of tanning phenotype in a population of European ancestry.

The Journal Of Investigative Dermatology
Nan, Hongmei H; Kraft, Peter P; Qureshi, Abrar A AA; Guo, Qun Q; Chen, Constance C; Hankinson, Susan E SE; Hu, Frank B FB; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ; Han, Jiali J
Publication Date: 2009-09

Variant appearance in text: rs35391
PubMed Link: 19340012
Variant Present in the following documents:
  • Main text
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A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

Plos Genetics
Han, Jiali J; Kraft, Peter P; Nan, Hongmei H; Guo, Qun Q; Chen, Constance C; Qureshi, Abrar A; Hankinson, Susan E SE; Hu, Frank B FB; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Martin, Nicholas G NG; Montgomery, Grant W GW; Hayward, Nicholas K NK; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ
Publication Date: 2008-05-16

Variant appearance in text: rs35391
PubMed Link: 18483556
Variant Present in the following documents:
  • Main text
  • pgen.1000074.pdf
View BVdb publication page