Variant ID: 15-28513364-T-C

NM_004667.5(HERC2):c.1598+247A>G

This variant was identified in 49 publications




Publications:


Iris Colour and the Risk of Developing Uveal Melanoma.

International Journal Of Molecular Sciences
LE Houtzagers, APA Wierenga, AAM Ruys, GPM Luyten, MJ Jager
Publication Date: 2020-09-28

Variant appearance in text: rs916977
PubMed Link: 32998469
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: rs916977
PubMed Link: 31762634
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Distinct genetic variation and heterogeneity of the Iranian population.

Plos Genetics
Z Mehrjoo, Z Fattahi, M Beheshtian, M Mohseni, H Poustchi, F Ardalani, K Jalalvand, S Arzhangi, Z Mohammadi, S Khoshbakht, F Najafi, P Nikuei, M Haddadi, E Zohrehvand, M Oladnabi, A Mohammadzadeh, MH Jafari, T Akhtarkhavari, ES Gooshki, A Haghdoost, R Najafipour, LM Niestroj, B Helwing, Y Gossmann, MR Toliat, R Malekzadeh, P Nürnberg, K Kahrizi, H Najmabadi, M Nothnagel
Publication Date: 2019-09

Variant appearance in text: rs916977
PubMed Link: 31550250
Variant Present in the following documents:
  • pgen.1008385.s029.xlsx
View BVdb publication page



Pigmentation phototype and prostate and breast cancer in a select Spanish population-A Mendelian randomization analysis in the MCC-Spain study.

Plos One
I Gómez-Acebo, T Dierssen-Sotos, C Palazuelos, P Fernández-Navarro, G Castaño-Vinyals, J Alonso-Molero, C Urtiaga, T Fernández-Villa, E Ardanaz, M Rivas-Del-Fresno, A Molina-Barceló, JJ Jiménez-Moleón, L García-Martinez, P Amiano, P Rodriguez-Cundin, V Moreno, B Pérez-Gómez, N Aragonés, M Kogevinas, M Pollán, J Llorca
Publication Date: 2018

Variant appearance in text: rs916977
PubMed Link: 30106959
Variant Present in the following documents:
  • pone.0201750.s001.docx
  • pone.0201750.s002.docx
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: rs916977
PubMed Link: 30050061
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advanced choroidal melanoma with a desirable aesthetic outcome after enucleation: A case report.

Oncology Letters
C Terzidou, A Trivli, G Dalianis, D Apessou, DA Spandidos, GN Goulielmos
Publication Date: 2018-07

Variant appearance in text: rs916977
PubMed Link: 29928440
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: rs916977
PubMed Link: 29457793
Variant Present in the following documents:
  • NIHMS937763-supplement-3.pdf
View BVdb publication page



Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis.

Molecular Vision
S Davoudi, VS Chang, D Navarro-Gomez, LK Stanwyck, DD Sevgi, E Papavasileiou, A Ren, E Uchiyama, L Sullivan, AM Lobo, GN Papaliodis, L Sobrin
Publication Date: 2018

Variant appearance in text: rs916977
PubMed Link: 29416296
Variant Present in the following documents:
  • Main text
  • mv-v24-59-app-1.docx
View BVdb publication page



Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology
M Singh, SC Tyagi
Publication Date: 2018

Variant appearance in text: rs916977
PubMed Link: 29376001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Towards the use of precision medicine in predicting cutaneous squamous cell carcinoma risk among solid organ transplant recipients.

The British Journal Of Dermatology
MO Nguyen, HT Nguyen, MM Asgari
Publication Date: 2017-10

Variant appearance in text: rs916977
PubMed Link: 29052902
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loci associated with skin pigmentation identified in African populations.

Science (New York, N.Y.)
NG Crawford, DE Kelly, MEB Hansen, MH Beltrame, S Fan, SL Bowman, E Jewett, A Ranciaro, S Thompson, Y Lo, SP Pfeifer, JD Jensen, MC Campbell, W Beggs, F Hormozdiari, SW Mpoloka, GG Mokone, T Nyambo, DW Meskel, G Belay, J Haut, , H Rothschild, L Zon, Y Zhou, MA Kovacs, M Xu, T Zhang, K Bishop, J Sinclair, C Rivas, E Elliot, J Choi, SA Li, B Hicks, S Burgess, C Abnet, DE Watkins-Chow, E Oceana, YS Song, E Eskin, KM Brown, MS Marks, SK Loftus, WJ Pavan, M Yeager, S Chanock, SA Tishkoff
Publication Date: 2017-11-17

Variant appearance in text: rs916977
PubMed Link: 29025994
Variant Present in the following documents:
  • Main text
View BVdb publication page



A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.

Npj Genomic Medicine
L Mobuchon, A Battistella, C Bardel, G Scelo, A Renoud, A Houy, N Cassoux, M Milder, G Cancel-Tassin, O Cussenot, O Delattre, C Besse, A Boland, JF Deleuze, DG Cox, MH Stern
Publication Date: 2017

Variant appearance in text: rs916977
PubMed Link: 28781888
Variant Present in the following documents:
  • 41525_2017_8_MOESM1_ESM.docx
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: rs916977
PubMed Link: 28456133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Signatures of natural selection on genetic variants affecting complex human traits.

Applied & Translational Genomics
G Zhang, LJ Muglia, R Chakraborty, JM Akey, SM Williams
Publication Date: 2013-12-01

Variant appearance in text: rs916977
PubMed Link: 27896059
Variant Present in the following documents:
  • Main text
View BVdb publication page



IRF4 Polymorphism Is Associated with Cutaneous Squamous Cell Carcinoma in Organ Transplant Recipients: A Pigment-Independent Phenomenon.

The Journal Of Investigative Dermatology
MM Asgari, AE Toland, ST Arron
Publication Date: 2017-01

Variant appearance in text: rs916977
PubMed Link: 27566401
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: rs916977
PubMed Link: 27499155
Variant Present in the following documents:
  • Main text
  • srep31191-s1.doc
View BVdb publication page



Early farmers from across Europe directly descended from Neolithic Aegeans.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Z Hofmanová, S Kreutzer, G Hellenthal, C Sell, Y Diekmann, D Díez-Del-Molino, L van Dorp, S López, A Kousathanas, V Link, K Kirsanow, LM Cassidy, R Martiniano, M Strobel, A Scheu, K Kotsakis, P Halstead, S Triantaphyllou, N Kyparissi-Apostolika, D Urem-Kotsou, C Ziota, F Adaktylou, S Gopalan, DM Bobo, L Winkelbach, J Blöcher, M Unterländer, C Leuenberger, Ç Çilingiroğlu, B Horejs, F Gerritsen, SJ Shennan, DG Bradley, M Currat, KR Veeramah, D Wegmann, MG Thomas, C Papageorgopoulou, J Burger
Publication Date: 2016-06-21

Variant appearance in text: rs916977
PubMed Link: 27274049
Variant Present in the following documents:
  • pnas.1523951113.sapp.pdf
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung, DA Hinds
Publication Date: 2016-07

Variant appearance in text: rs916977
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-17.pdf
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: rs916977
PubMed Link: 26829030
Variant Present in the following documents:
  • NIHMS756128-supplement-Supplemantary_Materials.pdf
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: rs916977
PubMed Link: 26596276
Variant Present in the following documents:
  • 12864_2015_2131_MOESM1_ESM.docx
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: rs916977
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: rs916977
PubMed Link: 26286644
Variant Present in the following documents:
  • Main text
  • ejhg2015167x1.doc
View BVdb publication page



Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
AK Andiappan, R Melchiotti, TY Poh, M Nah, KJ Puan, E Vigano, D Haase, N Yusof, B San Luis, J Lum, D Kumar, S Foo, L Zhuang, A Vasudev, A Irwanto, B Lee, A Nardin, H Liu, F Zhang, J Connolly, J Liu, A Mortellaro, Y Wang, M Poidinger, A Larbi, F Zolezzi, O Rotzschke
Publication Date: 2015-08-10

Variant appearance in text: rs916977
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
  • ncomms8971-s3.xlsx
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: rs916977
PubMed Link: 25262650
Variant Present in the following documents:
  • mmc2.xlsx
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: rs916977
PubMed Link: 24463515
Variant Present in the following documents:
  • NIHMS643758-supplement-Supplementary_Online_Material.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: rs916977
PubMed Link: 24188633
Variant Present in the following documents:
  • 1479-5876-11-279-S1.xlsx
View BVdb publication page



Molecular reclassification of Crohn's disease: a cautionary note on population stratification.

Plos One
B Maus, C Jung, JM Mahachie John, JP Hugot, E Génin, K Van Steen
Publication Date: 2013

Variant appearance in text: rs916977
PubMed Link: 24147066
Variant Present in the following documents:
  • Main text
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: rs916977
PubMed Link: 23486544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms.

Plos One
C Jung, JF Colombel, M Lemann, L Beaugerie, M Allez, J Cosnes, G Vernier-Massouille, JM Gornet, JP Gendre, JP Cezard, FM Ruemmele, D Turck, F Merlin, H Zouali, C Libersa, P Dieudé, N Soufir, G Thomas, JP Hugot
Publication Date: 2012

Variant appearance in text: rs916977
PubMed Link: 23300620
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood.

European Journal Of Human Genetics : Ejhg
D Mehta, K Heim, C Herder, M Carstensen, G Eckstein, C Schurmann, G Homuth, M Nauck, U Völker, M Roden, T Illig, C Gieger, T Meitinger, H Prokisch
Publication Date: 2013-01

Variant appearance in text: rs916977
PubMed Link: 22692066
Variant Present in the following documents:
  • ejhg2012106x7.xls
View BVdb publication page



Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Neurobiology Of Disease
DG Hernandez, MA Nalls, M Moore, S Chong, A Dillman, D Trabzuni, JR Gibbs, M Ryten, S Arepalli, ME Weale, AB Zonderman, J Troncoso, R O'Brien, R Walker, C Smith, S Bandinelli, BJ Traynor, J Hardy, AB Singleton, MR Cookson
Publication Date: 2012-07

Variant appearance in text: rs916977
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.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: rs916977
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: rs916977
PubMed Link: 21901107
Variant Present in the following documents:
  • pgen.1002240.s008.xls
View BVdb publication page



Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

Plos Genetics
V Plagnol, JM Howson, DJ Smyth, N Walker, JP Hafler, C Wallace, H Stevens, L Jackson, MJ Simmonds, , PJ Bingley, SC Gough, JA Todd
Publication Date: 2011-08

Variant appearance in text: rs916977
PubMed Link: 21829393
Variant Present in the following documents:
  • pgen.1002216.s004.pdf
View BVdb publication page



Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Plos Genetics
RS Fehrmann, RC Jansen, JH Veldink, HJ Westra, D Arends, MJ Bonder, J Fu, P Deelen, HJ Groen, A Smolonska, RK Weersma, RM Hofstra, WA Buurman, S Rensen, MG Wolfs, M Platteel, A Zhernakova, CC Elbers, EM Festen, G Trynka, MH Hofker, CG Saris, RA Ophoff, LH van den Berg, DA van Heel, C Wijmenga, GJ Te Meerman, L Franke
Publication Date: 2011-08

Variant appearance in text: rs916977
PubMed Link: 21829388
Variant Present in the following documents:
  • pgen.1002197.s012.xls
  • pgen.1002197.s016.xls
View BVdb publication page



Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9.

Hepatology (Baltimore, Md.)
M Janse, LE Lamberts, L Franke, S Raychaudhuri, E Ellinghaus, K Muri Boberg, E Melum, T Folseraas, E Schrumpf, A Bergquist, E Björnsson, J Fu, H Jan Westra, HJ Groen, RS Fehrmann, J Smolonska, LH van den Berg, RA Ophoff, RJ Porte, TJ Weismüller, J Wedemeyer, C Schramm, M Sterneck, R Günther, F Braun, S Vermeire, L Henckaerts, C Wijmenga, CY Ponsioen, S Schreiber, TH Karlsen, A Franke, RK Weersma
Publication Date: 2011-06

Variant appearance in text: rs916977
PubMed Link: 21425313
Variant Present in the following documents:
  • NIHMS280976-supplement-Supp_Table_S1-S3___Fig_S1.doc
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: rs916977
PubMed Link: 21270109
Variant Present in the following documents:
  • 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: rs916977
PubMed Link: 21197618
Variant Present in the following documents:
  • 439_2010_939_MOESM1_ESM.doc
  • aaaaaMain text
View BVdb publication page



Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.

Plos One
I Cleynen, JM Mahachie John, L Henckaerts, W Van Moerkercke, P Rutgeerts, K Van Steen, S Vermeire
Publication Date: 2010-09-23

Variant appearance in text: rs916977
PubMed Link: 20886065
Variant Present in the following documents:
  • pone.0012952.s002.xls
  • pone.0012952.s003.xls
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: rs916977
PubMed Link: 20546537
Variant Present in the following documents:
  • 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: rs916977
PubMed Link: 20463881
Variant Present in the following documents:
  • pgen.1000934.s005.doc
View BVdb publication page



Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.

Human Molecular Genetics
K Wang, R Baldassano, H Zhang, HQ Qu, M Imielinski, S Kugathasan, V Annese, M Dubinsky, JI Rotter, RK Russell, JP Bradfield, PM Sleiman, JT Glessner, T Walters, C Hou, C Kim, EC Frackelton, M Garris, J Doran, C Romano, C Catassi, J Van Limbergen, SL Guthery, L Denson, D Piccoli, MS Silverberg, CA Stanley, D Monos, DC Wilson, A Griffiths, SF Grant, J Satsangi, C Polychronakos, H Hakonarson
Publication Date: 2010-05-15

Variant appearance in text: rs916977
PubMed Link: 20176734
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: rs916977
PubMed Link: 20042077
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

Nature Genetics
MS Silverberg, JH Cho, JD Rioux, DP McGovern, J Wu, V Annese, JP Achkar, P Goyette, R Scott, W Xu, MM Barmada, L Klei, MJ Daly, C Abraham, TM Bayless, F Bossa, AM Griffiths, AF Ippoliti, RG Lahaie, A Latiano, P Paré, DD Proctor, MD Regueiro, AH Steinhart, SR Targan, LP Schumm, EO Kistner, AT Lee, PK Gregersen, JI Rotter, SR Brant, KD Taylor, K Roeder, RH Duerr
Publication Date: 2009-02

Variant appearance in text: rs916977
PubMed Link: 19122664
Variant Present in the following documents:
  • NIHMS74184-supplement-1.pdf
View BVdb publication page



Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.

Gastroenterology
CA Anderson, DC Massey, JC Barrett, NJ Prescott, M Tremelling, SA Fisher, R Gwilliam, J Jacob, ER Nimmo, H Drummond, CW Lees, CM Onnie, C Hanson, K Blaszczyk, R Ravindrarajah, S Hunt, D Varma, N Hammond, G Lewis, H Attlesey, N Watkins, W Ouwehand, D Strachan, W McArdle, CM Lewis, , A Lobo, J Sanderson, DP Jewell, P Deloukas, JC Mansfield, CG Mathew, J Satsangi, M Parkes
Publication Date: 2009-02

Variant appearance in text: rs916977
PubMed Link: 19068216
Variant Present in the following documents:
  • Main text
  • NIHMS4377-supplement-suppl_1.pdf
  • NIHMS4377-supplement-suppl_2.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: rs916977
PubMed Link: 18483556
Variant Present in the following documents:
  • Main text
  • pgen.1000074.s002.xls
  • pgen.1000074.s003.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: rs916977
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: rs916977
PubMed Link: 18252221
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

Nature Genetics
M Parkes, JC Barrett, NJ Prescott, M Tremelling, CA Anderson, SA Fisher, RG Roberts, ER Nimmo, FR Cummings, D Soars, H Drummond, CW Lees, SA Khawaja, R Bagnall, DA Burke, CE Todhunter, T Ahmad, CM Onnie, W McArdle, D Strachan, G Bethel, C Bryan, CM Lewis, P Deloukas, A Forbes, J Sanderson, DP Jewell, J Satsangi, JC Mansfield, , L Cardon, CG Mathew
Publication Date: 2007-07

Variant appearance in text: rs916977
PubMed Link: 17554261
Variant Present in the following documents:
  • NIHMS679-supplement-Supplementry_M.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261609.7 c.1598+247A>G - intron_variant - 12/92
ENST00000564734.1 c.*1468+247A>G - intron_variant,NMD_transcript_variant - 13/20
NM_004667.5 c.1598+247A>G - intron_variant - 12/92