A4GALT c.494G>A ;(p.R165H)

Variant ID: 22-43089464-C-T

NM_017436.4(A4GALT):c.494G>A;(p.R165H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-01-13

Variant appearance in text: A4GALT: R165H; rs145649275
PubMed Link: 35033986
Variant Present in the following documents:
  • mmc2.xlsx, sheet 13
  • mmc3.xlsx, sheet 11
View BVdb publication page



RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine
Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-02

Variant appearance in text: A4GALT: R165H; rs145649275
PubMed Link: 35033986
Variant Present in the following documents:
  • mmc3.xlsx, sheet 11
  • mmc2.xlsx, sheet 13
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs145649275
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page