SLC19A1 c.1294-904C>T

Variant ID: 21-46936958-G-A

NM_194255.2(SLC19A1):c.1294-904C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


[Association between maternal reduced folate carrier gene polymorphisms and congenital heart disease in offspring: a case-control study].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Qin, Jia-Bi JB; Sheng, Xiao-Qi XQ; Wang, Ting-Ting TT; Huang, Peng P; Li, Yi-Huan YH; Luo, Liu L; Liu, Yi-Ping YP; Diao, Jing-Yi JY; Zhu, Ping P
Publication Date: 2021-06

Variant appearance in text: rs3788190
PubMed Link: 34130774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs3788190
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Folate pathway and nonsyndromic cleft lip and palate.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Blanton, Susan H SH; Henry, Robin R RR; Yuan, Quiping Q; Mulliken, John B JB; Stal, Samuel S; Finnell, Richard H RH; Hecht, Jacqueline T JT
Publication Date: 2011-01

Variant appearance in text: rs3788190
PubMed Link: 21254359
Variant Present in the following documents:
  • Main text
View BVdb publication page



118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

Bmc Medical Genetics
Shaw, Gary M GM; Lu, Wei W; Zhu, Huiping H; Yang, Wei W; Briggs, Farren B S FB; Carmichael, Suzan L SL; Barcellos, Lisa F LF; Lammer, Edward J EJ; Finnell, Richard H RH
Publication Date: 2009-06-03

Variant appearance in text: rs3788190
PubMed Link: 19493349
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-49.pdf
View BVdb publication page