Variant ID: 15-28344238-A-G

NM_000275.3(OCA2):c.-22+132T>C

This variant was identified in 44 publications




Publications:


Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Plos One
JE Rayner, DL Duffy, DJ Smit, K Jagirdar, KJ Lee, B De'Ambrosis, BM Smithers, EK McMeniman, AM McInerney-Leo, H Schaider, MS Stark, HP Soyer, RA Sturm
Publication Date: 2020

Variant appearance in text: OCA2: -22+132T>C; rs7495174
PubMed Link: 32966289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Eye color prediction using single nucleotide polymorphisms in Saudi population.

Saudi Journal Of Biological Sciences
J Alghamdi, M Amoudi, AC Kassab, M Al Mufarrej, S Al Ghamdi
Publication Date: 2019-11

Variant appearance in text: rs7495174
PubMed Link: 31762634
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome.

Genomics, Proteomics & Bioinformatics
Z Du, L Ma, H Qu, W Chen, B Zhang, X Lu, W Zhai, X Sheng, Y Sun, W Li, M Lei, Q Qi, N Yuan, S Shi, J Zeng, J Wang, Y Yang, Q Liu, Y Hong, L Dong, Z Zhang, D Zou, Y Wang, S Song, F Liu, X Fang, H Chen, X Liu, J Xiao, C Zeng
Publication Date: 2019-06

Variant appearance in text: rs7495174
PubMed Link: 31494266
Variant Present in the following documents:
  • mmc24.xlsx
View BVdb publication page



Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches.

Human Genetics
K Zaorska, P Zawierucha, M Nowicki
Publication Date: 2019-06

Variant appearance in text: rs7495174
PubMed Link: 30980179
Variant Present in the following documents:
  • Main text
View BVdb publication page



A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics
K Zorina-Lichtenwalter, RN Lichtenwalter, DV Zaykin, M Parisien, S Gravel, A Bortsov, L Diatchenko
Publication Date: 2019-06-15

Variant appearance in text: rs7495174
PubMed Link: 30657907
Variant Present in the following documents:
  • Main text
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: rs7495174
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels.

Plos One
V Nair-Shalliker, S Egger, A Chrzanowska, R Mason, L Waite, D Le Couteur, MJ Seibel, DJ Handelsman, R Cumming, DP Smith, BK Armstrong
Publication Date: 2018

Variant appearance in text: rs7495174
PubMed Link: 29518100
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: rs7495174
PubMed Link: 29457793
Variant Present in the following documents:
  • NIHMS937763-supplement-3.pdf
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: rs7495174
PubMed Link: 29195075
Variant Present in the following documents:
  • Main text
  • NIHMS921744-supplement-2.xlsx
View BVdb publication page



Predictors of 25-Hydroxyvitamin D Concentration Measured at Multiple Time Points in a Multiethnic Population.

American Journal Of Epidemiology
JA Knight, J Wong, DEC Cole, TK Lee, EJ Parra
Publication Date: 2017-11-15

Variant appearance in text: rs7495174
PubMed Link: 28549072
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: rs7495174
PubMed Link: 28500464
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic markers of pigmentation are novel risk loci for uveal melanoma.

Scientific Reports
R Ferguson, M Vogelsang, E Ucisik-Akkaya, K Rai, R Pilarski, CN Martinez, J Rendleman, E Kazlow, K Nagdimov, I Osman, RJ Klein, FH Davidorf, CM Cebulla, MH Abdel-Rahman, T Kirchhoff
Publication Date: 2016-08-08

Variant appearance in text: rs7495174
PubMed Link: 27499155
Variant Present in the following documents:
  • srep31191-s1.doc
View BVdb publication page



Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

Plos One
P Johansen, JD Andersen, LN Madsen, H Ullum, M Glud, C Børsting, R Gniadecki, N Morling
Publication Date: 2016

Variant appearance in text: rs7495174
PubMed Link: 26938746
Variant Present in the following documents:
  • Main text
  • pone.0150381.s001.docx
View BVdb publication page



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: rs7495174
PubMed Link: 26829030
Variant Present in the following documents:
  • NIHMS756128-supplement-Supplemantary_Materials.pdf
View BVdb publication page



Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Bmc Genomics
M Corpas, W Valdivia-Granda, N Torres, B Greshake, A Coletta, A Knaus, AP Harrison, M Cariaso, F Moran, F Nielsen, D Swan, DY Weiss Solís, P Krawitz, F Schacherer, P Schols, H Yang, P Borry, G Glusman, PN Robinson
Publication Date: 2015-11-07

Variant appearance in text: rs7495174
PubMed Link: 26547235
Variant Present in the following documents:
  • Main text
View BVdb publication page



The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population.

European Journal Of Human Genetics : Ejhg
A Caliebe, M Harder, R Schuett, M Krawczak, A Nebel, N von Wurmb-Schwark
Publication Date: 2016-05

Variant appearance in text: rs7495174
PubMed Link: 26286644
Variant Present in the following documents:
  • Main text
  • ejhg2015167x1.doc
View BVdb publication page



Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.

Genes
BD Lin, H Mbarek, G Willemsen, CV Dolan, IO Fedko, A Abdellaoui, EJ de Geus, DI Boomsma, JJ Hottenga
Publication Date: 2015-07-13

Variant appearance in text: rs7495174
PubMed Link: 26184321
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.

Plos Genetics
B Marcheco-Teruel, EJ Parra, E Fuentes-Smith, A Salas, HN Buttenschøn, D Demontis, M Torres-Español, LC Marín-Padrón, EJ Gómez-Cabezas, V Alvarez-Iglesias, A Mosquera-Miguel, A Martínez-Fuentes, A Carracedo, AD Børglum, O Mors
Publication Date: 2014-07

Variant appearance in text: rs7495174
PubMed Link: 25058410
Variant Present in the following documents:
  • Main text
  • pgen.1004488.s009.docx
View BVdb publication page



Melanoma risk loci as determinants of melanoma recurrence and survival.

Journal Of Translational Medicine
J Rendleman, S Shang, C Dominianni, JF Shields, P Scanlon, C Adaniel, A Desrichard, M Ma, R Shapiro, R Berman, A Pavlick, D Polsky, Y Shao, I Osman, T Kirchhoff
Publication Date: 2013-11-04

Variant appearance in text: rs7495174
PubMed Link: 24188633
Variant Present in the following documents:
  • 1479-5876-11-279-S1.xlsx
View BVdb publication page



Genetics of eye colours in different rural populations on the Silk Road.

European Journal Of Human Genetics : Ejhg
S Ulivi, M Mezzavilla, P Gasparini
Publication Date: 2013-11

Variant appearance in text: rs7495174
PubMed Link: 23486544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using genetic proxies for lifecourse sun exposure to assess the causal relationship of sun exposure with circulating vitamin d and prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
C Bonilla, R Gilbert, JP Kemp, NJ Timpson, DM Evans, JL Donovan, FC Hamdy, DE Neal, WD Fraser, SG Davey, SJ Lewis, M Lathrop, RM Martin
Publication Date: 2013-04

Variant appearance in text: rs7495174
PubMed Link: 23441100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.

Plos One
SI Candille, DM Absher, S Beleza, M Bauchet, B McEvoy, NA Garrison, JZ Li, RM Myers, GS Barsh, H Tang, MD Shriver
Publication Date: 2012

Variant appearance in text: rs7495174
PubMed Link: 23118974
Variant Present in the following documents:
  • pone.0048294.s005.pdf
View BVdb publication page



A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model.

Croatian Medical Journal
V Kastelic, K Drobnic
Publication Date: 2012-10

Variant appearance in text: rs7495174
PubMed Link: 23100201
Variant Present in the following documents:
  • Main text
  • CroatMedJ_53_s013.pdf
  • CroatMedJ_53_s014.pdf
  • CroatMedJ_53_s015.pdf
View BVdb publication page



Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.

Plos One
DJ Berry, KS Vimaleswaran, JC Whittaker, AD Hingorani, E Hyppönen
Publication Date: 2012

Variant appearance in text: rs7495174
PubMed Link: 22629401
Variant Present in the following documents:
  • Main text
  • pone.0037465.s001.doc
View BVdb publication page



Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways.

Age (Dordrecht, Netherlands)
J Deelen, HW Uh, R Monajemi, D van Heemst, PE Thijssen, S Böhringer, EB van den Akker, AJ de Craen, F Rivadeneira, AG Uitterlinden, RG Westendorp, JJ Goeman, PE Slagboom, JJ Houwing-Duistermaat, M Beekman
Publication Date: 2013-02

Variant appearance in text: rs7495174
PubMed Link: 22113349
Variant Present in the following documents:
  • 11357_2011_9340_MOESM5_ESM.xls
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: rs7495174
PubMed Link: 22065085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for hitchhiking of deleterious mutations within the human genome.

Plos Genetics
S Chun, JC Fay
Publication Date: 2011-08

Variant appearance in text: rs7495174
PubMed Link: 21901107
Variant Present in the following documents:
  • pgen.1002240.s008.xls
View BVdb publication page



GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.

American Journal Of Human Genetics
M Larsson, DL Duffy, G Zhu, JZ Liu, S Macgregor, AF McRae, MJ Wright, RA Sturm, DA Mackey, GW Montgomery, NG Martin, SE Medland
Publication Date: 2011-08-12

Variant appearance in text: rs7495174
PubMed Link: 21835309
Variant Present in the following documents:
  • Main text
View BVdb publication page



A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus.

Cancer Research
J Han, AA Qureshi, H Nan, J Zhang, Y Song, Q Guo, DJ Hunter
Publication Date: 2011-03-01

Variant appearance in text: rs7495174
PubMed Link: 21270109
Variant Present in the following documents:
  • Main text
  • NIHMS266593-supplement-1.docx
View BVdb publication page



Model-based prediction of human hair color using DNA variants.

Human Genetics
W Branicki, F Liu, K van Duijn, J Draus-Barini, E Pośpiech, S Walsh, T Kupiec, A Wojas-Pelc, M Kayser
Publication Date: 2011-04

Variant appearance in text: rs7495174
PubMed Link: 21197618
Variant Present in the following documents:
  • 439_2010_939_MOESM1_ESM.doc
  • aaaaaMain 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
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs7495174
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic differences between five European populations.

Human Heredity
V Moskvina, M Smith, D Ivanov, D Blackwood, D StClair, C Hultman, D Toncheva, M Gill, A Corvin, C O'Dushlaine, DW Morris, NR Wray, P Sullivan, C Pato, MT Pato, P Sklar, S Purcell, P Holmans, MC O'Donovan, MJ Owen, G Kirov,
Publication Date: 2010

Variant appearance in text: rs7495174
PubMed Link: 20616560
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
N Eriksson, JM Macpherson, JY Tung, LS Hon, B Naughton, S Saxonov, L Avey, A Wojcicki, I Pe'er, J Mountain
Publication Date: 2010-06-24

Variant appearance in text: rs7495174
PubMed Link: 20585627
Variant Present in the following documents:
  • pgen.1000993.s001.xls
  • pgen.1000993.s007.pdf
View BVdb publication page



Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

Pigment Cell & Melanoma Research
MR Gerstenblith, J Shi, MT Landi
Publication Date: 2010-10

Variant appearance in text: rs7495174
PubMed Link: 20546537
Variant Present in the following documents:
  • Main text
  • NIHMS214020-supplement-Supp_Table_s1.doc
View BVdb publication page



Digital quantification of human eye color highlights genetic association of three new loci.

Plos Genetics
F Liu, A Wollstein, PG Hysi, GA Ankra-Badu, TD Spector, D Park, G Zhu, M Larsson, DL Duffy, GW Montgomery, DA Mackey, S Walsh, O Lao, A Hofman, F Rivadeneira, JR Vingerling, AG Uitterlinden, NG Martin, CJ Hammond, M Kayser
Publication Date: 2010-05-06

Variant appearance in text: rs7495174
PubMed Link: 20463881
Variant Present in the following documents:
  • pgen.1000934.s005.doc
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: rs7495174
PubMed Link: 20221248
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Bmc Genetics
J Mengel-From, TH Wong, N Morling, JL Rees, IJ Jackson
Publication Date: 2009-12-30

Variant appearance in text: rs7495174
PubMed Link: 20042077
Variant Present in the following documents:
  • Main text
View BVdb publication page



Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies.

Genome Medicine
D Udayakumar, H Tsao
Publication Date: 2009-10-27

Variant appearance in text: rs7495174
PubMed Link: 19863770
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: rs7495174
PubMed Link: 19710684
Variant Present in the following documents:
  • NIHMS468845-supplement-supplementary_data.doc
View BVdb publication page



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

The Journal Of Investigative Dermatology
H Nan, P Kraft, AA Qureshi, Q Guo, C Chen, SE Hankinson, FB Hu, G Thomas, RN Hoover, S Chanock, DJ Hunter, J Han
Publication Date: 2009-09

Variant appearance in text: rs7495174
PubMed Link: 19340012
Variant Present in the following documents:
  • Main text
  • NIHMS98114-supplement-supplement_1.pdf
View BVdb publication page



A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

Plos Genetics
J Han, P Kraft, H Nan, Q Guo, C Chen, A Qureshi, SE Hankinson, FB Hu, DL Duffy, ZZ Zhao, NG Martin, GW Montgomery, NK Hayward, G Thomas, RN Hoover, S Chanock, DJ Hunter
Publication Date: 2008-05-16

Variant appearance in text: rs7495174
PubMed Link: 18483556
Variant Present in the following documents:
  • Main text
  • pgen.1000074.s002.xls
  • pgen.1000074.s003.xls
  • pgen.1000074.s005.xls
View BVdb publication page



A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

American Journal Of Human Genetics
RA Sturm, DL Duffy, ZZ Zhao, FP Leite, MS Stark, NK Hayward, NG Martin, GW Montgomery
Publication Date: 2008-02

Variant appearance in text: rs7495174
PubMed Link: 18252222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

American Journal Of Human Genetics
M Kayser, F Liu, AC Janssens, F Rivadeneira, O Lao, K van Duijn, M Vermeulen, P Arp, MM Jhamai, WF van Ijcken, JT den Dunnen, S Heath, D Zelenika, DD Despriet, CC Klaver, JR Vingerling, PT de Jong, A Hofman, YS Aulchenko, AG Uitterlinden, BA Oostra, CM van Duijn
Publication Date: 2008-02

Variant appearance in text: rs7495174
PubMed Link: 18252221
Variant Present in the following documents:
  • Main text
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: rs7495174
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.-22+132T>C - intron_variant - 1/22
ENST00000354638.3 c.-22+132T>C - intron_variant - 1/23
ENST00000382996.2 c.-22+132T>C - intron_variant - 1/18
ENST00000431101.1 c.-22+19T>C - intron_variant - 1/6
ENST00000445578.1 c.-22+132T>C - intron_variant - 1/5
NM_000275.3 c.-22+132T>C - intron_variant - 1/23
NM_001300984.2 c.-22+132T>C - intron_variant - 1/22