GAK c.3166+578G>C

Variant ID: 4-858332-C-G

NM_005255.2(GAK):c.3166+578G>C

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Identification of methylation changes associated with positive and negative growth deviance in Gambian infants using a targeted methyl sequencing approach of genomic DNA.

Faseb Bioadvances
Quilter, Claire R CR; Harvey, Kerry M KM; Bauer, Julien J; Skinner, Benjamin M BM; Gomez, Maria M; Shrivastava, Manu M; Doel, Andrew M AM; Drammeh, Saikou S; Dunger, David B DB; Moore, Sophie E SE; Ong, Ken K KK; Prentice, Andrew M AM; Bernstein, Robin M RM; Sargent, Carole A CA; Affara, Nabeel A NA
Publication Date: 2021-04

Variant appearance in text: rs11248051
PubMed Link: 33842847
Variant Present in the following documents:
  • FBA2-3-205-s004.xlsx, sheet 3
View BVdb publication page



Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array.

Pharmacogenomics
Liu, Nianjun N; Irvin, Marguerite R MR; Zhi, Degui D; Patki, Amit A; Beasley, T Mark TM; Nickerson, Deborah A DA; Hill, Charles E CE; Chen, Jinbo J; Kimmel, Stephen E SE; Limdi, Nita A NA
Publication Date: 2017-07

Variant appearance in text: rs11248051
PubMed Link: 28686080
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Frontiers In Aging Neuroscience
Redenšek, Sara S; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2017

Variant appearance in text: rs11248051
PubMed Link: 28239348
Variant Present in the following documents:
  • Main text
  • fnagi-09-00020.pdf
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Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus.

Molecular Psychiatry
Desikan, R S RS; Schork, A J AJ; Wang, Y Y; Witoelar, A A; Sharma, M M; McEvoy, L K LK; Holland, D D; Brewer, J B JB; Chen, C-H CH; Thompson, W K WK; Harold, D D; Williams, J J; Owen, M J MJ; O'Donovan, M C MC; Pericak-Vance, M A MA; Mayeux, R R; Haines, J L JL; Farrer, L A LA; Schellenberg, G D GD; Heutink, P P; Singleton, A B AB; Brice, A A; Wood, N W NW; Hardy, J J; Martinez, M M; Choi, S H SH; DeStefano, A A; Ikram, M A MA; Bis, J C JC; Smith, A A; Fitzpatrick, A L AL; Launer, L L; van Duijn, C C; Seshadri, S S; Ulstein, I D ID; Aarsland, D D; Fladby, T T; Djurovic, S S; Hyman, B T BT; Snaedal, J J; Stefansson, H H; Stefansson, K K; Gasser, T T; Andreassen, O A OA; Dale, A M AM; ,
Publication Date: 2015-12

Variant appearance in text: rs11248051
PubMed Link: 25687773
Variant Present in the following documents:
  • Main text
  • nihms654369.pdf
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Genetic variations of GAK in two Chinese Parkinson's disease populations: a case-control study.

Plos One
Tseng, Wei-En Johnny WE; Chen, Chiung-Mei CM; Chen, Yi-Chun YC; Yi, Zhao Z; Tan, Eng-King EK; Wu, Yih-Ru YR
Publication Date: 2013

Variant appearance in text: rs11248051
PubMed Link: 23826309
Variant Present in the following documents:
  • Main text
  • pone.0067506.pdf
View BVdb publication page



Risk prediction for complex diseases: application to Parkinson disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hall, Taryn O TO; Wan, Jia Y JY; Mata, Ignacio F IF; Kerr, Kathleen F KF; Snapinn, Katherine W KW; Samii, Ali A; Roberts, John W JW; Agarwal, Pinky P; Zabetian, Cyrus P CP; Edwards, Karen L KL
Publication Date: 2013-05

Variant appearance in text: rs11248051
PubMed Link: 23222663
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

Annals Of Neurology
Pankratz, Nathan N; Beecham, Gary W GW; DeStefano, Anita L AL; Dawson, Ted M TM; Doheny, Kimberly F KF; Factor, Stewart A SA; Hamza, Taye H TH; Hung, Albert Y AY; Hyman, Bradley T BT; Ivinson, Adrian J AJ; Krainc, Dmitri D; Latourelle, Jeanne C JC; Clark, Lorraine N LN; Marder, Karen K; Martin, Eden R ER; Mayeux, Richard R; Ross, Owen A OA; Scherzer, Clemens R CR; Simon, David K DK; Tanner, Caroline C; Vance, Jeffery M JM; Wszolek, Zbigniew K ZK; Zabetian, Cyrus P CP; Myers, Richard H RH; Payami, Haydeh H; Scott, William K WK; Foroud, Tatiana T; ,
Publication Date: 2012-03

Variant appearance in text: rs11248051
PubMed Link: 22451204
Variant Present in the following documents:
  • Main text
View BVdb publication page



No association between Parkinson disease alleles and the risk of melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Meng, Shasha S; Song, Fengju F; Chen, Honglei H; Gao, Xiang X; Amos, Christopher I CI; Lee, Jeffrey E JE; Wei, Qingyi Q; Qureshi, Abrar A AA; Han, Jiali J
Publication Date: 2012-01

Variant appearance in text: rs11248051
PubMed Link: 22086882
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Mata, Ignacio F IF; Yearout, Dora D; Alvarez, Victoria V; Coto, Eliecer E; de Mena, Lorena L; Ribacoba, Renee R; Lorenzo-Betancor, Oswaldo O; Samaranch, Lluis L; Pastor, Pau P; Cervantes, Sebastian S; Infante, Jon J; Garcia-Gorostiaga, Ines I; Sierra, Maria M; Combarros, Onofre O; Snapinn, Katherine W KW; Edwards, Karen L KL; Zabetian, Cyrus P CP
Publication Date: 2011-04

Variant appearance in text: rs11248051
PubMed Link: 21425343
Variant Present in the following documents:
  • Main text
View BVdb publication page



A unified framework for multi-locus association analysis of both common and rare variants.

Bmc Genomics
Shriner, Daniel D; Vaughan, Laura Kelly LK
Publication Date: 2011-01-31

Variant appearance in text: rs11248051
PubMed Link: 21281506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

Nature Genetics
Hamza, Taye H TH; Zabetian, Cyrus P CP; Tenesa, Albert A; Laederach, Alain A; Montimurro, Jennifer J; Yearout, Dora D; Kay, Denise M DM; Doheny, Kimberly F KF; Paschall, Justin J; Pugh, Elizabeth E; Kusel, Victoria I VI; Collura, Randall R; Roberts, John J; Griffith, Alida A; Samii, Ali A; Scott, William K WK; Nutt, John J; Factor, Stewart A SA; Payami, Haydeh H
Publication Date: 2010-09

Variant appearance in text: rs11248051
PubMed Link: 20711177
Variant Present in the following documents:
  • Main text
  • nihms222438.pdf
  • NIHMS222438-supplement-1.pdf
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Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

Human Genetics
Pankratz, Nathan N; Wilk, Jemma B JB; Latourelle, Jeanne C JC; DeStefano, Anita L AL; Halter, Cheryl C; Pugh, Elizabeth W EW; Doheny, Kimberly F KF; Gusella, James F JF; Nichols, William C WC; Foroud, Tatiana T; Myers, Richard H RH; ,
Publication Date: 2009-01

Variant appearance in text: rs11248051
PubMed Link: 18985386
Variant Present in the following documents:
  • Main text
View BVdb publication page