ANKDD1B c.1095+1311C>T

Variant ID: 5-74956517-C-T

NM_001276713.1(ANKDD1B):c.1095+1311C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

Nature Communications
Emdin, Connor A CA; Khera, Amit V AV; Chaffin, Mark M; Klarin, Derek D; Natarajan, Pradeep P; Aragam, Krishna K; Haas, Mary M; Bick, Alexander A; Zekavat, Seyedeh M SM; Nomura, Akihiro A; Ardissino, Diego D; Wilson, James G JG; Schunkert, Heribert H; McPherson, Ruth R; Watkins, Hugh H; Elosua, Roberto R; Bown, Matthew J MJ; Samani, Nilesh J NJ; Baber, Usman U; Erdmann, Jeanette J; Gupta, Namrata N; Danesh, John J; Chasman, Daniel D; Ridker, Paul P; Denny, Joshua J; Bastarache, Lisa L; Lichtman, Judith H JH; D'Onofrio, Gail G; Mattera, Jennifer J; Spertus, John A JA; Sheu, Wayne H-H WH; Taylor, Kent D KD; Psaty, Bruce M BM; Rich, Stephen S SS; Post, Wendy W; Rotter, Jerome I JI; Chen, Yii-Der Ida YI; Krumholz, Harlan H; Saleheen, Danish D; Gabriel, Stacey S; Kathiresan, Sekar S
Publication Date: 2018-04-24

Variant appearance in text: rs253414
PubMed Link: 29691411
Variant Present in the following documents:
  • 41467_2018_3911_MOESM1_ESM.pdf
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs253414
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



A genetic risk score combining 32 SNPs is associated with body mass index and improves obesity prediction in people with major depressive disorder.

Bmc Medicine
Hung, Chi-Fa CF; Breen, Gerome G; Czamara, Darina D; Corre, Tanguy T; Wolf, Christiane C; Kloiber, Stefan S; Bergmann, Sven S; Craddock, Nick N; Gill, Michael M; Holsboer, Florian F; Jones, Lisa L; Jones, Ian I; Korszun, Ania A; Kutalik, Zoltan Z; Lucae, Susanne S; Maier, Wolfgang W; Mors, Ole O; Owen, Michael J MJ; Rice, John J; Rietschel, Marcella M; Uher, Rudolf R; Vollenweider, Peter P; Waeber, Gerard G; Craig, Ian W IW; Farmer, Anne E AE; Lewis, Cathryn M CM; Müller-Myhsok, Bertram B; Preisig, Martin M; McGuffin, Peter P; Rivera, Margarita M
Publication Date: 2015-04-17

Variant appearance in text: rs253414
PubMed Link: 25903154
Variant Present in the following documents:
  • Main text
  • 12916_2015_Article_334.pdf
View BVdb publication page



NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.

Plos Genetics
Heard-Costa, Nancy L NL; Zillikens, M Carola MC; Monda, Keri L KL; Johansson, Asa A; Harris, Tamara B TB; Fu, Mao M; Haritunians, Talin T; Feitosa, Mary F MF; Aspelund, Thor T; Eiriksdottir, Gudny G; Garcia, Melissa M; Launer, Lenore J LJ; Smith, Albert V AV; Mitchell, Braxton D BD; McArdle, Patrick F PF; Shuldiner, Alan R AR; Bielinski, Suzette J SJ; Boerwinkle, Eric E; Brancati, Fred F; Demerath, Ellen W EW; Pankow, James S JS; Arnold, Alice M AM; Chen, Yii-Der Ida YD; Glazer, Nicole L NL; McKnight, Barbara B; Psaty, Bruce M BM; Rotter, Jerome I JI; Amin, Najaf N; Campbell, Harry H; Gyllensten, Ulf U; Pattaro, Cristian C; Pramstaller, Peter P PP; Rudan, Igor I; Struchalin, Maksim M; Vitart, Veronique V; Gao, Xiaoyi X; Kraja, Aldi A; Province, Michael A MA; Zhang, Qunyuan Q; Atwood, Larry D LD; Dupuis, Josée J; Hirschhorn, Joel N JN; Jaquish, Cashell E CE; O'Donnell, Christopher J CJ; Vasan, Ramachandran S RS; White, Charles C CC; Aulchenko, Yurii S YS; Estrada, Karol K; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, André G AG; Witteman, Jacqueline C M JC; Oostra, Ben A BA; Kaplan, Robert C RC; Gudnason, Vilmundur V; O'Connell, Jeffrey R JR; Borecki, Ingrid B IB; van Duijn, Cornelia M CM; Cupples, L Adrienne LA; Fox, Caroline S CS; North, Kari E KE
Publication Date: 2009-06

Variant appearance in text: rs253414
PubMed Link: 19557197
Variant Present in the following documents:
  • Main text
  • pgen.1000539.pdf
View BVdb publication page