AMACR c.*2789G>A

Variant ID: 5-33986409-C-T

NM_014324.5(AMACR):c.*2789G>A

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs13289
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs13289
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.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: rs13289
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.

The Journal Of Investigative Dermatology
Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2020-04

Variant appearance in text: rs13289
PubMed Link: 31568773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Publication Date: 2018-11

Variant appearance in text: rs13289
PubMed Link: 29753029
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: rs13289
PubMed Link: 28500464
Variant Present in the following documents:
  • Main text
  • 439_2017_Article_1808.pdf
View BVdb publication page



Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Gibbs, David C DC; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Kricker, Anne A; Armstrong, Bruce K BK; Anton-Culver, Hoda H; Gruber, Stephen B SB; Marrett, Loraine D LD; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Dwyer, Terence T; Sharma, Ajay A; La Pilla, Emily E; From, Lynn L; Busam, Klaus J KJ; Cust, Anne E AE; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2015-06

Variant appearance in text: rs13289
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Publication Date: 2015-04

Variant appearance in text: rs13289
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



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

Plos One
Berry, Diane J DJ; Vimaleswaran, Karani S KS; Whittaker, John C JC; Hingorani, Aroon D AD; Hyppönen, Elina E
Publication Date: 2012

Variant appearance in text: rs13289
PubMed Link: 22629401
Variant Present in the following documents:
  • Main text
  • pone.0037465.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: rs13289
PubMed Link: 20546537
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.

International Journal Of Cancer
Nan, Hongmei H; Kraft, Peter P; Hunter, David J DJ; Han, Jiali J
Publication Date: 2009-08-15

Variant appearance in text: rs13289
PubMed Link: 19384953
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

The Journal Of Investigative Dermatology
Nan, Hongmei H; Kraft, Peter P; Qureshi, Abrar A AA; Guo, Qun Q; Chen, Constance C; Hankinson, Susan E SE; Hu, Frank B FB; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ; Han, Jiali J
Publication Date: 2009-09

Variant appearance in text: rs13289
PubMed Link: 19340012
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: rs13289
PubMed Link: 18483556
Variant Present in the following documents:
  • Main text
  • pgen.1000074.pdf
View BVdb publication page