SLC16A8 c.1198+268G>A

Variant ID: 22-38476579-C-T

NM_013356.2(SLC16A8):c.1198+268G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.

Nature Genetics
Ratnapriya, Rinki R; Sosina, Olukayode A OA; Starostik, Margaret R MR; Kwicklis, Madeline M; Kapphahn, Rebecca J RJ; Fritsche, Lars G LG; Walton, Ashley A; Arvanitis, Marios M; Gieser, Linn L; Pietraszkiewicz, Alexandra A; Montezuma, Sandra R SR; Chew, Emily Y EY; Battle, Alexis A; Abecasis, Gonçalo R GR; Ferrington, Deborah A DA; Chatterjee, Nilanjan N; Swaroop, Anand A
Publication Date: 2019-04

Variant appearance in text: rs5756908
PubMed Link: 30742112
Variant Present in the following documents:
  • Main text
  • nihms-1518564.pdf
View BVdb publication page



A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

Scientific Reports
Wang, Xiong X; Zhu, Yaowu Y; Shen, Na N; Peng, Jing J; Wang, Chunyu C; Liu, Haiyi H; Lu, Yanjun Y
Publication Date: 2017-01-27

Variant appearance in text: rs5756908
PubMed Link: 28128317
Variant Present in the following documents:
  • Main text
  • srep41513.pdf
View BVdb publication page



Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal
Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV
Publication Date: 2012-12

Variant appearance in text: rs5756908
PubMed Link: 21808284
Variant Present in the following documents:
  • NIHMS305090-supplement-3.pdf
View BVdb publication page