OCA2 c.-21-1724C>T

Variant ID: 15-28328765-G-A

NM_000275.2(OCA2):c.-21-1724C>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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

Plos One
Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA
Publication Date: 2020

Variant appearance in text: OCA2: -21-1724C>T; rs7174027
PubMed Link: 32966289
Variant Present in the following documents:
  • Main text
  • pone.0238529.pdf
View BVdb publication page



Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs7174027
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



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

Cancer Research
Han, Jiali J; Qureshi, Abrar A AA; Nan, Hongmei H; Zhang, Jiangwen J; Song, Yiqing Y; Guo, Qun Q; Hunter, David J DJ
Publication Date: 2011-03-01

Variant appearance in text: rs7174027
PubMed Link: 21270109
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Human Genetics
Branicki, Wojciech W; Liu, Fan F; van Duijn, Kate K; Draus-Barini, Jolanta J; Pośpiech, Ewelina E; Walsh, Susan S; Kupiec, Tomasz T; Wojas-Pelc, Anna A; Kayser, Manfred M
Publication Date: 2011-04

Variant appearance in text: rs7174027
PubMed Link: 21197618
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: rs7174027
PubMed Link: 20585627
Variant Present in the following documents:
  • 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
Gerstenblith, Meg R MR; Shi, Jianxin J; Landi, Maria Teresa MT
Publication Date: 2010-10

Variant appearance in text: rs7174027
PubMed Link: 20546537
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
Mengel-From, Jonas J; Wong, Terence H TH; Morling, Niels N; Rees, Jonathan L JL; Jackson, Ian J IJ
Publication Date: 2009-12-30

Variant appearance in text: rs7174027
PubMed Link: 20042077
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7174027
PubMed Link: 18483556
Variant Present in the following documents:
  • Main text
  • pgen.1000074.pdf
View BVdb publication page