KCNQ1 c.1514+42468G>T

Variant ID: 11-2725779-G-T

NM_000218.2(KCNQ1):c.1514+42468G>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.

Scientific Reports
Rovina, Davide D; La Vecchia, Marta M; Cortesi, Alice A; Fontana, Laura L; Pesant, Matthieu M; Maitz, Silvia S; Tabano, Silvia S; Bodega, Beatrice B; Miozzo, Monica M; Sirchia, Silvia M SM
Publication Date: 2020-05-19

Variant appearance in text: rs2283197
PubMed Link: 32427849
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_65082.pdf
View BVdb publication page



Differential methylation of the type 2 diabetes susceptibility locus KCNQ1 is associated with insulin sensitivity and is predicted by CpG site specific genetic variation.

Diabetes Research And Clinical Practice
Shah, Ushma J UJ; Xie, Weijia W; Flyvbjerg, Allan A; Nolan, John J JJ; Højlund, Kurt K; Walker, Mark M; Relton, Caroline L CL; Elliott, Hannah R HR; ,
Publication Date: 2019-02

Variant appearance in text: rs2283197
PubMed Link: 30641161
Variant Present in the following documents:
  • Main text
View BVdb publication page