PIGU c.529+4329C>T

Variant ID: 20-33218090-G-A

NM_080476.4(PIGU):c.529+4329C>T

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Accuracy of Eye and Hair Color Prediction in Mexican Mestizos from Monterrey City Based on ForenSeqTM DNA Signature Prep.

Genes
Aguilar-Velázquez, José Alonso JA; Llamas-de-Dios, Blanca Jeannete BJ; Córdova-Mercado, Miranda Fabiola MF; Coronado-Ávila, Carolina Elena CE; Salas-Salas, Orlando O; López-Quintero, Andrés A; Ramos-González, Benito B; Rangel-Villalobos, Héctor H
Publication Date: 2023-05-22

Variant appearance in text: rs2378249
PubMed Link: 37239480
Variant Present in the following documents:
  • genes-14-01120.pdf
View BVdb publication page



Human profiling from STR and SNP analysis of tropical bed bug, Cimex hemipterus, for forensic science.

Scientific Reports
Lim, Li L; Ab Majid, Abdul Hafiz AH
Publication Date: 2023-01-27

Variant appearance in text: rs2378249
PubMed Link: 36707655
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_28774.pdf
View BVdb publication page



Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.

Plos One
Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR
Publication Date: 2022

Variant appearance in text: rs2378249
PubMed Link: 35176104
Variant Present in the following documents:
  • Main text
  • pone.0264125.pdf
View BVdb publication page



Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing.

Genes
Diepenbroek, Marta M; Bayer, Birgit B; Anslinger, Katja K
Publication Date: 2021-08-30

Variant appearance in text: rs2378249
PubMed Link: 34573344
Variant Present in the following documents:
  • genes-12-01362.pdf
View BVdb publication page



Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes
Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E
Publication Date: 2021-02-03

Variant appearance in text: rs2378249
PubMed Link: 33546406
Variant Present in the following documents:
  • Main text
  • genes-12-00221.pdf
View BVdb publication page



Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open
Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y
Publication Date: 2021-02-09

Variant appearance in text: rs2378249
PubMed Link: 33495209
Variant Present in the following documents:
  • Main text
  • biolopen-10-056523.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: rs2378249
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Corded Ware cultural complexity uncovered using genomic and isotopic analysis from south-eastern Poland.

Scientific Reports
Linderholm, Anna A; Kılınç, Gülşah Merve GM; Szczepanek, Anita A; Włodarczak, Piotr P; Jarosz, Paweł P; Belka, Zdzislaw Z; Dopieralska, Jolanta J; Werens, Karolina K; Górski, Jacek J; Mazurek, Mirosław M; Hozer, Monika M; Rybicka, Małgorzata M; Ostrowski, Mikołaj M; Bagińska, Jolanta J; Koman, Wiesław W; Rodríguez-Varela, Ricardo R; Storå, Jan J; Götherström, Anders A; Krzewińska, Maja M
Publication Date: 2020-04-14

Variant appearance in text: rs2378249
PubMed Link: 32303690
Variant Present in the following documents:
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 11
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 12
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
Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L
Publication Date: 2019-06-15

Variant appearance in text: rs2378249
PubMed Link: 30657907
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: rs2378249
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
View BVdb publication page



Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.

Plos Biology
Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M
Publication Date: 2018-01

Variant appearance in text: rs2378249
PubMed Link: 29315301
Variant Present in the following documents:
  • pbio.2003703.s001.xlsx, sheet 1
View BVdb publication page



Predicting hair cortisol levels with hair pigmentation genes: a possible hair pigmentation bias.

Scientific Reports
Neumann, Alexander A; Noppe, Gerard G; Liu, Fan F; Kayser, Manfred M; Verhulst, Frank C FC; Jaddoe, Vincent W V VWV; van Rossum, Elisabeth F C EFC; Tiemeier, Henning H
Publication Date: 2017-08-17

Variant appearance in text: rs2378249
PubMed Link: 28819144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global skin colour prediction from DNA.

Human Genetics
Walsh, Susan S; Chaitanya, Lakshmi L; Breslin, Krystal K; Muralidharan, Charanya C; Bronikowska, Agnieszka A; Pospiech, Ewelina E; Koller, Julia J; Kovatsi, Leda L; Wollstein, Andreas A; Branicki, Wojciech W; Liu, Fan F; Kayser, Manfred M
Publication Date: 2017-07

Variant appearance in text: rs2378249
PubMed Link: 28500464
Variant Present in the following documents:
  • Main text
  • 439_2017_Article_1808.pdf
View BVdb publication page



Multidisciplinary Identification of the Controversial Freedom Fighter Jörg Jenatsch, Assassinated 1639 in Chur, Switzerland.

Plos One
Haeusler, Martin M; Haas, Cordula C; Lösch, Sandra S; Moghaddam, Negahnaz N; Villa, Igor M IM; Walsh, Susan S; Kayser, Manfred M; Seiler, Roger R; Ruehli, Frank F; Janosa, Manuel M; Papageorgopoulou, Christina C
Publication Date: 2016

Variant appearance in text: rs2378249
PubMed Link: 28030571
Variant Present in the following documents:
  • Main text
  • pone.0168014.pdf
View BVdb publication page



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

Bmc Genomics
Ambers, Angie D AD; Churchill, Jennifer D JD; King, Jonathan L JL; Stoljarova, Monika M; Gill-King, Harrell H; Assidi, Mourad M; Abu-Elmagd, Muhammad M; Buhmeida, Abdelbaset A; Al-Qahtani, Mohammed M; Budowle, Bruce B
Publication Date: 2016-10-17

Variant appearance in text: rs2378249
PubMed Link: 27766958
Variant Present in the following documents:
  • Main text
  • 12864_2016_3087_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The genetics of an early Neolithic pastoralist from the Zagros, Iran.

Scientific Reports
Gallego-Llorente, M M; Connell, S S; Jones, E R ER; Merrett, D C DC; Jeon, Y Y; Eriksson, A A; Siska, V V; Gamba, C C; Meiklejohn, C C; Beyer, R R; Jeon, S S; Cho, Y S YS; Hofreiter, M M; Bhak, J J; Manica, A A; Pinhasi, R R
Publication Date: 2016-08-09

Variant appearance in text: rs2378249
PubMed Link: 27502179
Variant Present in the following documents:
  • srep31326-s1.pdf
View BVdb publication page



Upper Palaeolithic genomes reveal deep roots of modern Eurasians.

Nature Communications
Jones, Eppie R ER; Gonzalez-Fortes, Gloria G; Connell, Sarah S; Siska, Veronika V; Eriksson, Anders A; Martiniano, Rui R; McLaughlin, Russell L RL; Gallego Llorente, Marcos M; Cassidy, Lara M LM; Gamba, Cristina C; Meshveliani, Tengiz T; Bar-Yosef, Ofer O; Müller, Werner W; Belfer-Cohen, Anna A; Matskevich, Zinovi Z; Jakeli, Nino N; Higham, Thomas F G TFG; Currat, Mathias M; Lordkipanidze, David D; Hofreiter, Michael M; Manica, Andrea A; Pinhasi, Ron R; Bradley, Daniel G DG
Publication Date: 2015-11-16

Variant appearance in text: rs2378249
PubMed Link: 26567969
Variant Present in the following documents:
  • ncomms9912-s1.pdf
View BVdb publication page



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

Bmc Genomics
Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss Solís, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN
Publication Date: 2015-11-07

Variant appearance in text: rs2378249
PubMed Link: 26547235
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Common Genetic Origin for Early Farmers from Mediterranean Cardial and Central European LBK Cultures.

Molecular Biology And Evolution
Olalde, Iñigo I; Schroeder, Hannes H; Sandoval-Velasco, Marcela M; Vinner, Lasse L; Lobón, Irene I; Ramirez, Oscar O; Civit, Sergi S; García Borja, Pablo P; Salazar-García, Domingo C DC; Talamo, Sahra S; María Fullola, Josep J; Xavier Oms, Francesc F; Pedro, Mireia M; Martínez, Pablo P; Sanz, Montserrat M; Daura, Joan J; Zilhão, João J; Marquès-Bonet, Tomàs T; Gilbert, M Thomas P MT; Lalueza-Fox, Carles C
Publication Date: 2015-12

Variant appearance in text: rs2378249
PubMed Link: 26337550
Variant Present in the following documents:
  • supp_msv181_cardial_supplementary_MBE_submission.pdf
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
Caliebe, Amke A; Harder, Melanie M; Schuett, Rebecca R; Krawczak, Michael M; Nebel, Almut A; von Wurmb-Schwark, Nicole N
Publication Date: 2016-05

Variant appearance in text: rs2378249
PubMed Link: 26286644
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome flux and stasis in a five millennium transect of European prehistory.

Nature Communications
Gamba, Cristina C; Jones, Eppie R ER; Teasdale, Matthew D MD; McLaughlin, Russell L RL; Gonzalez-Fortes, Gloria G; Mattiangeli, Valeria V; Domboróczki, László L; Kővári, Ivett I; Pap, Ildikó I; Anders, Alexandra A; Whittle, Alasdair A; Dani, János J; Raczky, Pál P; Higham, Thomas F G TF; Hofreiter, Michael M; Bradley, Daniel G DG; Pinhasi, Ron R
Publication Date: 2014-10-21

Variant appearance in text: rs2378249
PubMed Link: 25334030
Variant Present in the following documents:
  • ncomms6257-s1.pdf
View BVdb publication page



Ancient human genomes suggest three ancestral populations for present-day Europeans.

Nature
Lazaridis, Iosif I; Patterson, Nick N; Mittnik, Alissa A; Renaud, Gabriel G; Mallick, Swapan S; Kirsanow, Karola K; Sudmant, Peter H PH; Schraiber, Joshua G JG; Castellano, Sergi S; Lipson, Mark M; Berger, Bonnie B; Economou, Christos C; Bollongino, Ruth R; Fu, Qiaomei Q; Bos, Kirsten I KI; Nordenfelt, Susanne S; Li, Heng H; de Filippo, Cesare C; Prüfer, Kay K; Sawyer, Susanna S; Posth, Cosimo C; Haak, Wolfgang W; Hallgren, Fredrik F; Fornander, Elin E; Rohland, Nadin N; Delsate, Dominique D; Francken, Michael M; Guinet, Jean-Michel JM; Wahl, Joachim J; Ayodo, George G; Babiker, Hamza A HA; Bailliet, Graciela G; Balanovska, Elena E; Balanovsky, Oleg O; Barrantes, Ramiro R; Bedoya, Gabriel G; Ben-Ami, Haim H; Bene, Judit J; Berrada, Fouad F; Bravi, Claudio M CM; Brisighelli, Francesca F; Busby, George B J GB; Cali, Francesco F; Churnosov, Mikhail M; Cole, David E C DE; Corach, Daniel D; Damba, Larissa L; van Driem, George G; Dryomov, Stanislav S; Dugoujon, Jean-Michel JM; Fedorova, Sardana A SA; Gallego Romero, Irene I; Gubina, Marina M; Hammer, Michael M; Henn, Brenna M BM; Hervig, Tor T; Hodoglugil, Ugur U; Jha, Aashish R AR; Karachanak-Yankova, Sena S; Khusainova, Rita R; Khusnutdinova, Elza E; Kittles, Rick R; Kivisild, Toomas T; Klitz, William W; Kučinskas, Vaidutis V; Kushniarevich, Alena A; Laredj, Leila L; Litvinov, Sergey S; Loukidis, Theologos T; Mahley, Robert W RW; Melegh, Béla B; Metspalu, Ene E; Molina, Julio J; Mountain, Joanna J; Näkkäläjärvi, Klemetti K; Nesheva, Desislava D; Nyambo, Thomas T; Osipova, Ludmila L; Parik, Jüri J; Platonov, Fedor F; Posukh, Olga O; Romano, Valentino V; Rothhammer, Francisco F; Rudan, Igor I; Ruizbakiev, Ruslan R; Sahakyan, Hovhannes H; Sajantila, Antti A; Salas, Antonio A; Starikovskaya, Elena B EB; Tarekegn, Ayele A; Toncheva, Draga D; Turdikulova, Shahlo S; Uktveryte, Ingrida I; Utevska, Olga O; Vasquez, René R; Villena, Mercedes M; Voevoda, Mikhail M; Winkler, Cheryl A CA; Yepiskoposyan, Levon L; Zalloua, Pierre P; Zemunik, Tatijana T; Cooper, Alan A; Capelli, Cristian C; Thomas, Mark G MG; Ruiz-Linares, Andres A; Tishkoff, Sarah A SA; Singh, Lalji L; Thangaraj, Kumarasamy K; Villems, Richard R; Comas, David D; Sukernik, Rem R; Metspalu, Mait M; Meyer, Matthias M; Eichler, Evan E EE; Burger, Joachim J; Slatkin, Montgomery M; Pääbo, Svante S; Kelso, Janet J; Reich, David D; Krause, Johannes J
Publication Date: 2014-09-18

Variant appearance in text: rs2378249
PubMed Link: 25230663
Variant Present in the following documents:
  • NIHMS613260-supplement-supplement_1.pdf
View BVdb publication page



Allelic frequencies of 20 visible phenotype variants in the korean population.

Genomics & Informatics
Lim, Ji Eun JE; Oh, Bermseok B
Publication Date: 2013-06

Variant appearance in text: rs2378249
PubMed Link: 23843775
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains.

Investigative Genetics
Draus-Barini, Jolanta J; Walsh, Susan S; Pośpiech, Ewelina E; Kupiec, Tomasz T; Głąb, Henryk H; Branicki, Wojciech W; Kayser, Manfred M
Publication Date: 2013-01-14

Variant appearance in text: rs2378249
PubMed Link: 23317428
Variant Present in the following documents:
  • Main text
  • 2041-2223-4-3.pdf
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: rs2378249
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: rs2378249
PubMed Link: 20585627
Variant Present in the following documents:
  • pgen.1000993.s007.pdf
View BVdb publication page