Variant ID: 15-28197037-T-C

NM_000275.2(OCA2):c.1844A>G;(p.His615Arg)

This variant was identified in 46 publications




Publications:


Evaluation of the Precision of Ancestry Inferences in South American Admixed Populations.

Frontiers In Genetics
V Pereira, R Santangelo, C Børsting, T Tvedebrink, APF Almeida, EF Carvalho, N Morling, L Gusmão
Publication Date: 2020

Variant appearance in text: rs1800414
PubMed Link: 32973885
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

Scientific Reports
KK Kidd, AJ Pakstis, MP Donnelly, O Bulbul, L Cherni, C Gurkan, L Kang, H Li, L Yun, P Paschou, KA Meiklejohn, E Haigh, WC Speed
Publication Date: 2020-09-22

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 32963319
Variant Present in the following documents:
  • Main text
View BVdb publication page



Panel-based targeted exome sequencing reveals novel candidate susceptibility loci for age-related cataracts in Chinese Cohort.

Molecular Genetics & Genomic Medicine
JK Li, LL Li, W Li, ZW Wang, FJ Gao, FY Hu, SH Zhang, SF Qu, J Huang, LS Wang, JH Wu, F Chen
Publication Date: 2020-07

Variant appearance in text: rs1800414
PubMed Link: 32337810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations.

Genes & Nutrition
P Jones, M Lucock, G Chaplin, NG Jablonski, M Veysey, C Scarlett, E Beckett
Publication Date: 2020-03-13

Variant appearance in text: rs1800414
PubMed Link: 32169032
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
K Adhikari, J Mendoza-Revilla, A Sohail, M Fuentes-Guajardo, J Lampert, JC Chacón-Duque, M Hurtado, V Villegas, V Granja, V Acuña-Alonzo, C Jaramillo, W Arias, RB Lozano, P Everardo, J Gómez-Valdés, H Villamil-Ramírez, CC Silva de Cerqueira, T Hunemeier, V Ramallo, L Schuler-Faccini, FM Salzano, R Gonzalez-José, MC Bortolini, S Canizales-Quinteros, C Gallo, G Poletti, G Bedoya, F Rothhammer, DJ Tobin, M Fumagalli, D Balding, A Ruiz-Linares
Publication Date: 2019-01-21

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
View BVdb publication page



Bronze Age population dynamics and the rise of dairy pastoralism on the eastern Eurasian steppe.

Proceedings Of The National Academy Of Sciences Of The United States Of America
C Jeong, S Wilkin, T Amgalantugs, AS Bouwman, WTT Taylor, RW Hagan, S Bromage, S Tsolmon, C Trachsel, J Grossmann, J Littleton, CA Makarewicz, J Krigbaum, M Burri, A Scott, G Davaasambuu, J Wright, F Irmer, E Myagmar, N Boivin, M Robbeets, FJ Rühli, J Krause, B Frohlich, J Hendy, C Warinner
Publication Date: 2018-11-27

Variant appearance in text: rs1800414
PubMed Link: 30397125
Variant Present in the following documents:
  • pnas.1813608115.sapp.pdf
View BVdb publication page



Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences
S Del Bino, C Duval, F Bernerd
Publication Date: 2018-09-08

Variant appearance in text: rs1800414
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
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Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal.

Plos Genetics
C Jeong, DB Witonsky, B Basnyat, M Neupane, CM Beall, G Childs, SR Craig, J Novembre, A Di Rienzo
Publication Date: 2018-09

Variant appearance in text: rs1800414
PubMed Link: 30188897
Variant Present in the following documents:
  • Main text
View BVdb publication page



Application of partial least squares in exploring the genome selection signatures between populations.

Heredity
H Sun, Z Zhang, BS Olasege, Z Xu, Q Zhao, P Ma, Q Wang, Y Pan
Publication Date: 2019-03

Variant appearance in text: rs1800414
PubMed Link: 30050061
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying the favored mutation in a positive selective sweep.

Nature Methods
A Akbari, JJ Vitti, A Iranmehr, M Bakhtiari, PC Sabeti, S Mirarab, V Bafna
Publication Date: 2018-04

Variant appearance in text: rs1800414
PubMed Link: 29457793
Variant Present in the following documents:
  • NIHMS937763-supplement-3.pdf
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Estimating Time to the Common Ancestor for a Beneficial Allele.

Molecular Biology And Evolution
J Smith, G Coop, M Stephens, J Novembre
Publication Date: 2018-04-01

Variant appearance in text: rs1800414
PubMed Link: 29361025
Variant Present in the following documents:
  • Main text
View BVdb publication page



FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations.

Genome Biology
M Szpak, M Mezzavilla, Q Ayub, Y Chen, Y Xue, C Tyler-Smith
Publication Date: 2018-01-17

Variant appearance in text: rs1800414
PubMed Link: 29343290
Variant Present in the following documents:
  • 13059_2017_1380_MOESM3_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.

Cell
AR Martin, M Lin, JM Granka, JW Myrick, X Liu, A Sockell, EG Atkinson, CJ Werely, M Möller, MS Sandhu, DM Kingsley, EG Hoal, X Liu, MJ Daly, MW Feldman, CR Gignoux, CD Bustamante, BM Henn
Publication Date: 2017-11-30

Variant appearance in text: rs1800414
PubMed Link: 29195075
Variant Present in the following documents:
  • Main text
  • NIHMS921744-supplement-2.xlsx
View BVdb publication page



Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.

Peerj
L Rawofi, M Edwards, S Krithika, P Le, D Cha, Z Yang, Y Ma, J Wang, B Su, L Jin, HL Norton, EJ Parra
Publication Date: 2017

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 29109912
Variant Present in the following documents:
  • Main text
  • peerj-05-3951-s013.xlsx
View BVdb publication page



Adaptation of human skin color in various populations.

Hereditas
L Deng, S Xu
Publication Date: 2018

Variant appearance in text: rs1800414
PubMed Link: 28701907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global skin colour prediction from DNA.

Human Genetics
S Walsh, L Chaitanya, K Breslin, C Muralidharan, A Bronikowska, E Pospiech, J Koller, L Kovatsi, A Wollstein, W Branicki, F Liu, M Kayser
Publication Date: 2017-07

Variant appearance in text: rs1800414
PubMed Link: 28500464
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
L Wei, DC Allain, MN Bernhardt, JL Gillespie, SB Peters, OH Iwenofu, HH Nelson, ST Arron, AE Toland
Publication Date: 2017-10

Variant appearance in text: OCA2: H615R
PubMed Link: 28456133
Variant Present in the following documents:
  • Main text
View BVdb publication page



More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing.

Bmc Genomics
AD Ambers, JD Churchill, JL King, M Stoljarova, H Gill-King, M Assidi, M Abu-Elmagd, A Buhmeida, M Al-Qahtani, B Budowle
Publication Date: 2016-10-17

Variant appearance in text: rs1800414
PubMed Link: 27766958
Variant Present in the following documents:
  • 12864_2016_3087_MOESM2_ESM.xlsx
View BVdb publication page



Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular Genetics & Genomic Medicine
JD Andersen, C Pietroni, P Johansen, MM Andersen, V Pereira, C Børsting, N Morling
Publication Date: 2016-07

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations.

Human Genome Variation
N Murray, HL Norton, EJ Parra
Publication Date: 2015

Variant appearance in text: rs1800414
PubMed Link: 27081560
Variant Present in the following documents:
  • Main text
  • hgv201558-s1.xls
  • hgv201558-s2.doc
View BVdb publication page



Human genetic variation database, a reference database of genetic variations in the Japanese population.

Journal Of Human Genetics
K Higasa, N Miyake, J Yoshimura, K Okamura, T Niihori, H Saitsu, K Doi, M Shimizu, K Nakabayashi, Y Aoki, Y Tsurusaki, S Morishita, T Kawaguchi, O Migita, K Nakayama, M Nakashima, J Mitsui, M Narahara, K Hayashi, R Funayama, D Yamaguchi, H Ishiura, WY Ko, K Hata, T Nagashima, R Yamada, Y Matsubara, A Umezawa, S Tsuji, N Matsumoto, F Matsuda
Publication Date: 2016-06

Variant appearance in text: rs1800414
PubMed Link: 26911352
Variant Present in the following documents:
  • Main text
  • jhg201612x8.xls
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Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

The Journal Of Investigative Dermatology
MM Asgari, W Wang, NM Ioannidis, J Itnyre, T Hoffmann, E Jorgenson, AS Whittemore
Publication Date: 2016-05

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 26829030
Variant Present in the following documents:
  • NIHMS756128-supplement-Supplemantary_Materials.pdf
View BVdb publication page



A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.

Molecular Biology And Evolution
Z Yang, H Zhong, J Chen, X Zhang, H Zhang, X Luo, S Xu, H Chen, D Lu, Y Han, J Li, L Fu, X Qi, Y Peng, K Xiang, Q Lin, Y Guo, M Li, X Cao, Y Zhang, S Liao, Y Peng, L Zhang, X Guo, S Dong, F Liang, J Wang, A Willden, H Seang Aun, B Serey, T Sovannary, L Bunnath, H Samnom, G Mardon, Q Li, A Meng, H Shi, B Su
Publication Date: 2016-05

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 26744415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations and shared environmental effects on the skin microbiome of Korean twins.

Bmc Genomics
J Si, S Lee, JM Park, J Sung, G Ko
Publication Date: 2015-11-23

Variant appearance in text: rs1800414
PubMed Link: 26596276
Variant Present in the following documents:
  • 12864_2015_2131_MOESM1_ESM.docx
View BVdb publication page



Estimating the Ages of Selection Signals from Different Epochs in Human History.

Molecular Biology And Evolution
S Nakagome, G Alkorta-Aranburu, R Amato, B Howie, BM Peter, RR Hudson, A Di Rienzo
Publication Date: 2016-03

Variant appearance in text: rs1800414
PubMed Link: 26545921
Variant Present in the following documents:
  • supp_msv256_Resubmission_SOM_2015_notes_v13.pdf
View BVdb publication page



Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu.

Genetics
C Jeong, S Nakagome, A Di Rienzo
Publication Date: 2016-01

Variant appearance in text: OCA2: H615R; rs1800414
PubMed Link: 26500257
Variant Present in the following documents:
  • Main text
  • TableS8.pdf
View BVdb publication page



Skin transcriptome profiles associated with skin color in chickens.

Plos One
J Zhang, F Liu, J Cao, X Liu
Publication Date: 2015

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 26030885
Variant Present in the following documents:
  • Main text
View BVdb publication page



A hidden Markov model for investigating recent positive selection through haplotype structure.

Theoretical Population Biology
H Chen, J Hey, M Slatkin
Publication Date: 2015-02

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 25446961
Variant Present in the following documents:
  • Main text
View BVdb publication page



Widespread signals of convergent adaptation to high altitude in Asia and america.

American Journal Of Human Genetics
M Foll, OE Gaggiotti, JT Daub, A Vatsiou, L Excoffier
Publication Date: 2014-10-02

Variant appearance in text: rs1800414
PubMed Link: 25262650
Variant Present in the following documents:
  • mmc2.xlsx
View BVdb publication page



Adaptations to local environments in modern human populations.

Current Opinion In Genetics & Development
C Jeong, A Di Rienzo
Publication Date: 2014-12

Variant appearance in text: OCA2: H615R; rs1800414
PubMed Link: 25129844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implications of the admixture process in skin color molecular assessment.

Plos One
CC Cerqueira, T Hünemeier, J Gomez-Valdés, V Ramallo, CD Volasko-Krause, AA Barbosa, P Vargas-Pinilla, RC Dornelles, D Longo, F Rothhammer, G Bedoya, S Canizales-Quinteros, V Acuña-Alonzo, C Gallo, G Poletti, R González-José, FM Salzano, SM Callegari-Jacques, L Schuler-Faccini, A Ruiz-Linares, M Cátira Bortolini,
Publication Date: 2014

Variant appearance in text: rs1800414
PubMed Link: 24809478
Variant Present in the following documents:
  • Main text
  • pone.0096886.s001.docx
View BVdb publication page



Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure.

European Journal Of Human Genetics : Ejhg
R Polimanti, S Piacentini, A Iorio, F De Angelis, A Kozlov, A Novelletto, M Fuciarelli
Publication Date: 2015-01

Variant appearance in text: rs1800414
PubMed Link: 24667780
Variant Present in the following documents:
  • Main text
View BVdb publication page



Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.

Nature
I Olalde, ME Allentoft, F Sánchez-Quinto, G Santpere, CW Chiang, M DeGiorgio, J Prado-Martinez, JA Rodríguez, S Rasmussen, J Quilez, O Ramírez, UM Marigorta, M Fernández-Callejo, ME Prada, JM Encinas, R Nielsen, MG Netea, J Novembre, RA Sturm, P Sabeti, T Marquès-Bonet, A Navarro, E Willerslev, C Lalueza-Fox
Publication Date: 2014-03-13

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 24463515
Variant Present in the following documents:
  • NIHMS643758-supplement-Supplementary_Online_Material.docx
View BVdb publication page



Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry.

Bmc Evolutionary Biology
JL Hider, RM Gittelman, T Shah, M Edwards, A Rosenbloom, JM Akey, EJ Parra
Publication Date: 2013-07-12

Variant appearance in text: OCA2: His615Arg
PubMed Link: 23848512
Variant Present in the following documents:
  • 1471-2148-13-150-S3.docx
  • aaaaaMain text
View BVdb publication page



Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.

Plos One
JL Rodriguez-Flores, J Fuller, NR Hackett, J Salit, JA Malek, E Al-Dous, L Chouchane, M Zirie, A Jayoussi, MA Mahmoud, RG Crystal, JG Mezey
Publication Date: 2012

Variant appearance in text: rs1800414
PubMed Link: 23139751
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human pigmentation genes under environmental selection.

Genome Biology
RA Sturm, DL Duffy
Publication Date: 2012-09-26

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 23110848
Variant Present in the following documents:
  • Main text
View BVdb publication page



A global view of the OCA2-HERC2 region and pigmentation.

Human Genetics
MP Donnelly, P Paschou, E Grigorenko, D Gurwitz, C Barta, RB Lu, OV Zhukova, JJ Kim, M Siniscalco, M New, H Li, SL Kajuna, VG Manolopoulos, WC Speed, AJ Pakstis, JR Kidd, KK Kidd
Publication Date: 2012-05

Variant appearance in text: rs1800414
PubMed Link: 22065085
Variant Present in the following documents:
  • 439_2011_1110_MOESM1_ESM.doc
  • aaaaaMain text
View BVdb publication page



Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

Molecular Vision
MN Preising, H Forster, M Gonser, B Lorenz
Publication Date: 2011-04-15

Variant appearance in text: OCA2: 1844A>G; H615R
PubMed Link: 21541274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.

Plos Genetics
M Edwards, A Bigham, J Tan, S Li, A Gozdzik, K Ross, L Jin, EJ Parra
Publication Date: 2010-03-05

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 20221248
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting phenotype from genotype: normal pigmentation.

Journal Of Forensic Sciences
RK Valenzuela, MS Henderson, MH Walsh, NA Garrison, JT Kelch, O Cohen-Barak, DT Erickson, F John Meaney, J Bruce Walsh, KC Cheng, S Ito, K Wakamatsu, T Frudakis, M Thomas, MH Brilliant
Publication Date: 2010-03-01

Variant appearance in text: rs1800414
PubMed Link: 20158590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

The Journal Of Investigative Dermatology
DL Duffy, ZZ Zhao, RA Sturm, NK Hayward, NG Martin, GW Montgomery
Publication Date: 2010-02

Variant appearance in text: rs1800414
PubMed Link: 19710684
Variant Present in the following documents:
  • NIHMS468845-supplement-supplementary_data.doc
View BVdb publication page



Interactions between SNP alleles at multiple Loci and variation in skin pigmentation in 122 Caucasians.

Evolutionary Bioinformatics Online
S Anno, T Abe, K Sairyo, S Kudo, T Yamamoto, K Ogata, VK Goel
Publication Date: 2007-09-06

Variant appearance in text: rs1800414
PubMed Link: 19461972
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.

International Journal Of Biological Sciences
S Anno, T Abe, T Yamamoto
Publication Date: 2008-03-31

Variant appearance in text: rs1800414
PubMed Link: 18392143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide detection and characterization of positive selection in human populations.

Nature
PC Sabeti, P Varilly, B Fry, J Lohmueller, E Hostetter, C Cotsapas, X Xie, EH Byrne, SA McCarroll, R Gaudet, SF Schaffner, ES Lander, , KA Frazer, DG Ballinger, DR Cox, DA Hinds, LL Stuve, RA Gibbs, JW Belmont, A Boudreau, P Hardenbol, SM Leal, S Pasternak, DA Wheeler, TD Willis, F Yu, H Yang, C Zeng, Y Gao, H Hu, W Hu, C Li, W Lin, S Liu, H Pan, X Tang, J Wang, W Wang, J Yu, B Zhang, Q Zhang, H Zhao, H Zhao, J Zhou, SB Gabriel, R Barry, B Blumenstiel, A Camargo, M Defelice, M Faggart, M Goyette, S Gupta, J Moore, H Nguyen, RC Onofrio, M Parkin, J Roy, E Stahl, E Winchester, L Ziaugra, D Altshuler, Y Shen, Z Yao, W Huang, X Chu, Y He, L Jin, Y Liu, Y Shen, W Sun, H Wang, Y Wang, Y Wang, X Xiong, L Xu, MM Waye, SK Tsui, H Xue, JT Wong, LM Galver, JB Fan, K Gunderson, SS Murray, AR Oliphant, MS Chee, A Montpetit, F Chagnon, V Ferretti, M Leboeuf, JF Olivier, MS Phillips, S Roumy, C Sallée, A Verner, TJ Hudson, PY Kwok, D Cai, DC Koboldt, RD Miller, L Pawlikowska, P Taillon-Miller, M Xiao, LC Tsui, W Mak, YQ Song, PK Tam, Y Nakamura, T Kawaguchi, T Kitamoto, T Morizono, A Nagashima, Y Ohnishi, A Sekine, T Tanaka, T Tsunoda, P Deloukas, CP Bird, M Delgado, ET Dermitzakis, R Gwilliam, S Hunt, J Morrison, D Powell, BE Stranger, P Whittaker, DR Bentley, MJ Daly, PI de Bakker, J Barrett, YR Chretien, J Maller, S McCarroll, N Patterson, I Pe'er, A Price, S Purcell, DJ Richter, P Sabeti, R Saxena, SF Schaffner, PC Sham, P Varilly, D Altshuler, LD Stein, L Krishnan, AV Smith, MK Tello-Ruiz, GA Thorisson, A Chakravarti, PE Chen, DJ Cutler, CS Kashuk, S Lin, GR Abecasis, W Guan, Y Li, HM Munro, ZS Qin, DJ Thomas, G McVean, A Auton, L Bottolo, N Cardin, S Eyheramendy, C Freeman, J Marchini, S Myers, C Spencer, M Stephens, P Donnelly, LR Cardon, G Clarke, DM Evans, AP Morris, BS Weir, T Tsunoda, TA Johnson, JC Mullikin, ST Sherry, M Feolo, A Skol, H Zhang, C Zeng, H Zhao, I Matsuda, Y Fukushima, DR Macer, E Suda, CN Rotimi, CA Adebamowo, I Ajayi, T Aniagwu, PA Marshall, C Nkwodimmah, CD Royal, MF Leppert, M Dixon, A Peiffer, R Qiu, A Kent, K Kato, N Niikawa, IF Adewole, BM Knoppers, MW Foster, EW Clayton, J Watkin, RA Gibbs, JW Belmont, D Muzny, L Nazareth, E Sodergren, GM Weinstock, DA Wheeler, I Yakub, SB Gabriel, RC Onofrio, DJ Richter, L Ziaugra, BW Birren, MJ Daly, D Altshuler, RK Wilson, LL Fulton, J Rogers, J Burton, NP Carter, CM Clee, M Griffiths, MC Jones, K McLay, RW Plumb, MT Ross, SK Sims, DL Willey, Z Chen, H Han, L Kang, M Godbout, JC Wallenburg, P L'Archevêque, G Bellemare, K Saeki, H Wang, D An, H Fu, Q Li, Z Wang, R Wang, AL Holden, LD Brooks, JE McEwen, MS Guyer, VO Wang, JL Peterson, M Shi, J Spiegel, LM Sung, LF Zacharia, FS Collins, K Kennedy, R Jamieson, J Stewart
Publication Date: 2007-10-18

Variant appearance in text: rs1800414
PubMed Link: 17943131
Variant Present in the following documents:
  • NIHMS4416-supplement-S1.pdf
View BVdb publication page



A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

American Journal Of Human Genetics
DL Duffy, GW Montgomery, W Chen, ZZ Zhao, L Le, MR James, NK Hayward, NG Martin, RA Sturm
Publication Date: 2007-02

Variant appearance in text: OCA2: His615Arg; rs1800414
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

American Journal Of Medical Genetics
RA Spritz, T Bailin, RD Nicholls, ST Lee, SK Park, MJ Mascari, MG Butler
Publication Date: 1997-07-11

Variant appearance in text: OCA2: H615R
PubMed Link: 9215770
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.1772A>G p.His591Arg missense_variant,splice_region_variant 17/23 -
ENST00000354638.3 c.1844A>G p.His615Arg missense_variant,splice_region_variant 18/24 -
ENST00000382996.2 c.1844A>G p.His615Arg missense_variant,splice_region_variant 18/19 -
NM_000275.3 c.1844A>G p.His615Arg missense_variant,splice_region_variant 18/24 -
NM_001300984.2 c.1772A>G p.His591Arg missense_variant,splice_region_variant 17/23 -