BAD c.187+2742G>A

Variant ID: 11-64048912-C-T

NM_032989.2(BAD):c.187+2742G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs477895
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology
Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K
Publication Date: 2021-09-27

Variant appearance in text: rs477895
PubMed Link: 34580418
Variant Present in the following documents:
  • 42003_2021_2642_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations.

Genetic Epidemiology
Evangelou, Marina M; Smyth, Deborah J DJ; Fortune, Mary D MD; Burren, Oliver S OS; Walker, Neil M NM; Guo, Hui H; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Concannon, Patrick P; Rich, Stephen S SS; Todd, John A JA; Wallace, Chris C
Publication Date: 2014-12

Variant appearance in text: rs477895
PubMed Link: 25371288
Variant Present in the following documents:
  • Main text
  • gepi0038-0661.pdf
View BVdb publication page



Association of genetic markers in the BCL-2 family of apoptosis-related genes with endometrial cancer risk in a Chinese population.

Plos One
Dorjgochoo, Tsogzolmaa T; Xiang, Yong-Bing YB; Long, Jirong J; Shi, Jiajun J; Deming, Sandra S; Xu, Wang-Hong WH; Cai, Hui H; Cheng, Jiarong J; Cai, Qiuyin Q; Zheng, Wei W; Shu, Xiao-Ou XO
Publication Date: 2013

Variant appearance in text: rs477895
PubMed Link: 23637776
Variant Present in the following documents:
  • Main text
  • pone.0060915.pdf
View BVdb publication page



A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

Plos Genetics
Qayyum, Rehan R; Snively, Beverly M BM; Ziv, Elad E; Nalls, Michael A MA; Liu, Yongmei Y; Tang, Weihong W; Yanek, Lisa R LR; Lange, Leslie L; Evans, Michele K MK; Ganesh, Santhi S; Austin, Melissa A MA; Lettre, Guillaume G; Becker, Diane M DM; Zonderman, Alan B AB; Singleton, Andrew B AB; Harris, Tamara B TB; Mohler, Emile R ER; Logsdon, Benjamin A BA; Kooperberg, Charles C; Folsom, Aaron R AR; Wilson, James G JG; Becker, Lewis C LC; Reiner, Alexander P AP
Publication Date: 2012

Variant appearance in text: rs477895
PubMed Link: 22423221
Variant Present in the following documents:
  • Main text
  • pgen.1002491.pdf
View BVdb publication page