Variant ID: 16-89986546-G-A

NM_002386.3(MC1R):c.880G>A;(p.Asp294Asn)

This variant was identified in 51 publications




Publications:


Molecular characterization of coat color gene in Sahiwal versus Karan Fries bovine.

Journal, Genetic Engineering & Biotechnology
TS Goud, RC Upadhyay, VBR Pichili, SK Onteru, K Chadipiralla
Publication Date: 2021-01-29

Variant appearance in text: MC1R: 880G>A
PubMed Link: 33512595
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin.

Scientific Reports
E Neparáczki, Z Maróti, T Kalmár, K Maár, I Nagy, D Latinovics, Á Kustár, G Pálfi, E Molnár, A Marcsik, C Balogh, G Lőrinczy, SS Gál, P Tomka, B Kovacsóczy, L Kovács, I Raskó, T Török
Publication Date: 2019-11-12

Variant appearance in text: rs1805009
PubMed Link: 31719606
PubMed Central Link
Variant Present in the following documents:
  • 41598_2019_53105_MOESM2_ESM.xlsx
View BVdb publication page



Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits.

The Pharmacogenomics Journal
J Li, Z Wei, J Zhang, H Hakonarson, SD Cook-Sather
Publication Date: 2019-12

Variant appearance in text: rs1805009
PubMed Link: 30760877
PubMed Central Link
Variant Present in the following documents:
  • NIHMS1517353-supplement-1.pdf
View BVdb publication page



Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Critical Care (London, England)
H Lu, D Wen, X Wang, L Gan, J Du, J Sun, L Zeng, J Jiang, A Zhang
Publication Date: 2019-01-25

Variant appearance in text: rs1805009
PubMed Link: 30683156
PubMed Central Link
Variant Present in the following documents:
  • 13054_2019_2313_MOESM2_ESM.xls
  • 13054_2019_2313_MOESM3_ESM.docx
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: rs1805009
PubMed Link: 30664655
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
View BVdb publication page



Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe.

Nature Communications
TC Lamnidis, K Majander, C Jeong, E Salmela, A Wessman, V Moiseyev, V Khartanovich, O Balanovsky, M Ongyerth, A Weihmann, A Sajantila, J Kelso, S Pääbo, P Onkamo, W Haak, J Krause, S Schiffels
Publication Date: 2018-11-27

Variant appearance in text: rs1805009
PubMed Link: 30479341
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_7483_MOESM5_ESM.xlsx
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: rs1805009
PubMed Link: 30205563
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.

Scientific Reports
C Endo, TA Johnson, R Morino, K Nakazono, S Kamitsuji, M Akita, M Kawajiri, T Yamasaki, A Kami, Y Hoshi, A Tada, K Ishikawa, M Hine, M Kobayashi, N Kurume, Y Tsunemi, N Kamatani, M Kawashima
Publication Date: 2018-06-12

Variant appearance in text: rs1805009
PubMed Link: 29895819
PubMed Central Link
Variant Present in the following documents:
  • 41598_2018_27145_MOESM1_ESM.pdf
View BVdb publication page



CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.

Acta Dermato-Venereologica
F Karagianni, CN Njauw, KP Kypreou, A Stergiopoulou, M Plaka, D Polydorou, V Chasapi, L Pappas, IA Stratigos, G Champsas, P Panagiotou, H Gogas, E Evangelou, H Tsao, AJ Stratigos, I Stefanaki
Publication Date: 2018-10-10

Variant appearance in text: rs1805009
PubMed Link: 29774366
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease
Y Yu, H Hu, JS Chen, F Hu, J Fowler, P Scheet, H Zhao, CD Huff
Publication Date: 2018-06

Variant appearance in text: rs1805009
PubMed Link: 29317335
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Scientific Reports
A Neumann, G Noppe, F Liu, M Kayser, FC Verhulst, VWV Jaddoe, EFC van Rossum, H Tiemeier
Publication Date: 2017-08-17

Variant appearance in text: rs1805009
PubMed Link: 28819144
PubMed Central Link
Variant Present in the following documents:
  • 41598_2017_7034_MOESM1_ESM.pdf
View BVdb publication page



Adaptation of human skin color in various populations.

Hereditas
L Deng, S Xu
Publication Date: 2018

Variant appearance in text: rs1805009
PubMed Link: 28701907
PubMed Central Link
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: rs1805009
PubMed Link: 28500464
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Neolithic Transition in the Baltic Was Not Driven by Admixture with Early European Farmers.

Current Biology : Cb
ER Jones, G Zarina, V Moiseyev, E Lightfoot, PR Nigst, A Manica, R Pinhasi, DG Bradley
Publication Date: 2017-02-20

Variant appearance in text: rs1805009
PubMed Link: 28162894
PubMed Central Link
Variant Present in the following documents:
  • mmc3.pdf
  • mmc1.pdf
View BVdb publication page



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

Plos One
M Haeusler, C Haas, S Lösch, N Moghaddam, IM Villa, S Walsh, M Kayser, R Seiler, F Ruehli, M Janosa, C Papageorgopoulou
Publication Date: 2016

Variant appearance in text: rs1805009
PubMed Link: 28030571
PubMed Central Link
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: rs1805009
PubMed Link: 27766958
PubMed Central Link
Variant Present in the following documents:
  • 12864_2016_3087_MOESM4_ESM.xlsx
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs1805009
PubMed Link: 27502179
PubMed Central Link
Variant Present in the following documents:
  • srep31326-s1.pdf
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: rs1805009
PubMed Link: 27274049
PubMed Central Link
Variant Present in the following documents:
  • pnas.1523951113.sapp.pdf
View BVdb publication page



Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

Annals Of Neurology
O Lorenzo-Betancor, ZK Wszolek, OA Ross
Publication Date: 2016-02

Variant appearance in text: rs1805009
PubMed Link: 26677074
PubMed Central Link
Variant Present in the following documents:
  • NIHMS746220-supplement-Supp_Table_S1.docx
View BVdb publication page



Upper Palaeolithic genomes reveal deep roots of modern Eurasians.

Nature Communications
ER Jones, G Gonzalez-Fortes, S Connell, V Siska, A Eriksson, R Martiniano, RL McLaughlin, M Gallego Llorente, LM Cassidy, C Gamba, T Meshveliani, O Bar-Yosef, W Müller, A Belfer-Cohen, Z Matskevich, N Jakeli, TFG Higham, M Currat, D Lordkipanidze, M Hofreiter, A Manica, R Pinhasi, DG Bradley
Publication Date: 2015-11-16

Variant appearance in text: rs1805009
PubMed Link: 26567969
PubMed Central Link
Variant Present in the following documents:
  • ncomms9912-s1.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
A Caliebe, M Harder, R Schuett, M Krawczak, A Nebel, N von Wurmb-Schwark
Publication Date: 2016-05

Variant appearance in text: rs1805009
PubMed Link: 26286644
PubMed Central Link
Variant Present in the following documents:
  • ejhg2015167x1.doc
  • Main text
View BVdb publication page



MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project.

British Journal Of Cancer
E Tagliabue, MC Fargnoli, S Gandini, P Maisonneuve, F Liu, M Kayser, T Nijsten, J Han, R Kumar, NA Gruis, L Ferrucci, W Branicki, T Dwyer, L Blizzard, P Helsing, P Autier, JC García-Borrón, PA Kanetsky, MT Landi, J Little, J Newton-Bishop, F Sera, S Raimondi,
Publication Date: 2015-07-14

Variant appearance in text: rs1805009
PubMed Link: 26103569
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.

Biomed Research International
E Pośpiech, J Ligęza, W Wilk, A Gołas, J Jaszczyński, A Stelmach, J Ryś, A Blecharczyk, A Wojas-Pelc, J Jura, W Branicki
Publication Date: 2015

Variant appearance in text: rs1805009
PubMed Link: 25945350
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 860405.f1.pdf
View BVdb publication page



A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.

The Journal Of Investigative Dermatology
LC Jacobs, MA Hamer, DA Gunn, J Deelen, JS Lall, D van Heemst, HW Uh, A Hofman, AG Uitterlinden, CEM Griffiths, M Beekman, PE Slagboom, M Kayser, F Liu, T Nijsten
Publication Date: 2015-07

Variant appearance in text: rs1805009
PubMed Link: 25705849
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Clinical and genetic factors related to cancer-induced bone pain and bone pain relief.

The Oncologist
E Scarpi, D Calistri, P Klepstad, S Kaasa, F Skorpen, R Habberstad, O Nanni, D Amadori, M Maltoni
Publication Date: 2014-12

Variant appearance in text: rs1805009
PubMed Link: 25342315
PubMed Central Link
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
C Gamba, ER Jones, MD Teasdale, RL McLaughlin, G Gonzalez-Fortes, V Mattiangeli, L Domboróczki, I Kővári, I Pap, A Anders, A Whittle, J Dani, P Raczky, TF Higham, M Hofreiter, DG Bradley, R Pinhasi
Publication Date: 2014-10-21

Variant appearance in text: rs1805009
PubMed Link: 25334030
PubMed Central Link
Variant Present in the following documents:
  • ncomms6257-s1.pdf
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: rs1805009
PubMed Link: 24809478
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Environmental, personal, and genetic determinants of response to vitamin D supplementation in older adults.

The Journal Of Clinical Endocrinology And Metabolism
M Waterhouse, B Tran, BK Armstrong, C Baxter, PR Ebeling, DR English, V Gebski, C Hill, MG Kimlin, RM Lucas, A Venn, PM Webb, DC Whiteman, RE Neale
Publication Date: 2014-07

Variant appearance in text: rs1805009
PubMed Link: 24694335
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
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: rs1805009
PubMed Link: 24463515
PubMed Central Link
Variant Present in the following documents:
  • NIHMS643758-supplement-Supplementary_Online_Material.docx
View BVdb publication page



Nature and nurture of human pain.

Scientifica
I Belfer
Publication Date: 2013

Variant appearance in text: rs1805009
PubMed Link: 24278778
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Susceptibility to Cutaneous Squamous Cell Carcinoma in Renal Transplant Recipients Associates with Genes Regulating Melanogenesis Independent of their Role in Pigmentation.

Biomarkers In Cancer
PA Andresen, DA Nymoen, K Kjærheim, T Leivestad, P Helsing
Publication Date: 2013

Variant appearance in text: rs1805009
PubMed Link: 24179397
PubMed Central Link
Variant Present in the following documents:
  • BIC-supp.pdf
View BVdb publication page



A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.

European Journal Of Human Genetics : Ejhg
CQ Chang, A Yesupriya, JL Rowell, CB Pimentel, M Clyne, M Gwinn, MJ Khoury, A Wulf, SD Schully
Publication Date: 2014-03

Variant appearance in text: rs1805009
PubMed Link: 23881057
PubMed Central Link
Variant Present in the following documents:
  • ejhg2013161x1.xls
View BVdb publication page



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

Genomics & Informatics
JE Lim, B Oh
Publication Date: 2013-06

Variant appearance in text: rs1805009
PubMed Link: 23843775
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

Human Molecular Genetics
M Zhang, F Song, L Liang, H Nan, J Zhang, H Liu, LE Wang, Q Wei, JE Lee, CI Amos, P Kraft, AA Qureshi, J Han
Publication Date: 2013-07-15

Variant appearance in text: rs1805009
PubMed Link: 23548203
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study.

Plos One
I Stefanaki, OA Panagiotou, E Kodela, H Gogas, KP Kypreou, F Chatzinasiou, V Nikolaou, M Plaka, I Kalfa, C Antoniou, JP Ioannidis, E Evangelou, AJ Stratigos
Publication Date: 2013

Variant appearance in text: rs1805009
PubMed Link: 23393597
PubMed Central Link
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
J Draus-Barini, S Walsh, E Pośpiech, T Kupiec, H Głąb, W Branicki, M Kayser
Publication Date: 2013-01-14

Variant appearance in text: rs1805009
PubMed Link: 23317428
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip.

International Journal Of Legal Medicine
B Keating, AT Bansal, S Walsh, J Millman, J Newman, K Kidd, B Budowle, A Eisenberg, J Donfack, P Gasparini, Z Budimlija, AK Henders, H Chandrupatla, DL Duffy, SD Gordon, P Hysi, F Liu, SE Medland, L Rubin, NG Martin, TD Spector, M Kayser,
Publication Date: 2013-05

Variant appearance in text: rs1805009
PubMed Link: 23149900
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between health-service use and multiplex genetic testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
RJ Reid, CM McBride, SH Alford, C Price, AD Baxevanis, LC Brody, EB Larson
Publication Date: 2012-10

Variant appearance in text: rs1805009
PubMed Link: 22595941
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Is there a genetic cause of appetite loss?-an explorative study in 1,853 cancer patients.

Journal Of Cachexia, Sarcopenia And Muscle
TS Solheim, PM Fayers, T Fladvad, B Tan, F Skorpen, K Fearon, VE Baracos, P Klepstad, F Strasser, S Kaasa,
Publication Date: 2012-09

Variant appearance in text: rs1805009
PubMed Link: 22535570
PubMed Central Link
Variant Present in the following documents:
  • 13539_2012_64_MOESM1_ESM.doc
View BVdb publication page



Is ethnicity associated with morphine's side effects in children? Morphine pharmacokinetics, analgesic response, and side effects in children having tonsillectomy.

Paediatric Anaesthesia
N Jimenez, GD Anderson, DD Shen, SS Nielsen, FM Farin, K Seidel, AM Lynn
Publication Date: 2012-07

Variant appearance in text: rs1805009
PubMed Link: 22486937
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in the LEPR, CRY1, RNASEL, IL4, and ARVCF genes are prognostic markers of prostate cancer-specific mortality.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
DW Lin, LM FitzGerald, R Fu, EM Kwon, SL Zheng, S Kolb, F Wiklund, P Stattin, WB Isaacs, J Xu, EA Ostrander, Z Feng, H Grönberg, JL Stanford
Publication Date: 2011-09

Variant appearance in text: rs1805009
PubMed Link: 21846818
PubMed Central Link
Variant Present in the following documents:
  • NIHMS311155-supplement-1.xls
View BVdb publication page



Comprehensive field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma.

Journal Of The National Cancer Institute
F Chatzinasiou, CM Lill, K Kypreou, I Stefanaki, V Nicolaou, G Spyrou, E Evangelou, JT Roehr, E Kodela, A Katsambas, H Tsao, JP Ioannidis, L Bertram, AJ Stratigos
Publication Date: 2011-08-17

Variant appearance in text: rs1805009
PubMed Link: 21693730
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variability of pain perception and treatment--clinical pharmacological implications.

European Journal Of Clinical Pharmacology
J Lötsch
Publication Date: 2011-06

Variant appearance in text: rs1805009
PubMed Link: 21344316
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
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: rs1805009
PubMed Link: 21197618
PubMed Central Link
Variant Present in the following documents:
  • 439_2010_939_MOESM1_ESM.doc
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: rs1805009
PubMed Link: 20585627
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • pgen.1000993.s007.pdf
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: rs1805009
PubMed Link: 19710684
PubMed Central Link
Variant Present in the following documents:
  • NIHMS468845-supplement-supplementary_data.doc
View BVdb publication page



Current evidence for a modulation of low back pain by human genetic variants.

Journal Of Cellular And Molecular Medicine
I Tegeder, J Lötsch
Publication Date: 2009-08

Variant appearance in text: rs1805009
PubMed Link: 19228264
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cataloging coding sequence variations in human genome databases.

Plos One
HH Won, HJ Kim, KA Lee, JW Kim
Publication Date: 2008

Variant appearance in text: rs1805009
PubMed Link: 18974781
PubMed Central Link
Variant Present in the following documents:
  • pone.0003575.s003.xls
  • pone.0003575.s007.xls
View BVdb publication page



Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Endocrinology
K Tan, ID Pogozheva, GS Yeo, D Hadaschik, JM Keogh, C Haskell-Leuvano, S O'Rahilly, HI Mosberg, IS Farooqi
Publication Date: 2009-01

Variant appearance in text: MC1R: D294N
PubMed Link: 18801902
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of functional nonsynonymous single nucleotide polymorphisms in human G-protein-coupled receptors.

Journal Of Human Genetics
D Xue, J Yin, M Tan, J Yue, Y Wang, L Liang
Publication Date: 2008

Variant appearance in text: rs1805009
PubMed Link: 18299956
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



A genomewide association study of skin pigmentation in a South Asian population.

American Journal Of Human Genetics
RP Stokowski, PV Pant, T Dadd, A Fereday, DA Hinds, C Jarman, W Filsell, RS Ginger, MR Green, FJ van der Ouderaa, DR Cox
Publication Date: 2007-12

Variant appearance in text: rs1805009
PubMed Link: 17999355
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1226G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.674C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.880G>A p.Asp294Asn missense_variant 1/1 -
ENST00000555427.1 c.880G>A p.Asp294Asn missense_variant 3/4 -
ENST00000556922.1 c.880G>A p.Asp294Asn missense_variant 1/5 -
NM_002386.3 c.880G>A p.Asp294Asn missense_variant 1/1 -