KCNQ1 c.1794+14055C>T

Variant ID: 11-2813322-C-T

NM_000218.2(KCNQ1):c.1794+14055C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Parent-of-Origin inference for biobanks.

Nature Communications
Hofmeister, Robin J RJ; Rubinacci, Simone S; Ribeiro, Diogo M DM; Buil, Alfonso A; Kutalik, Zoltán Z; Delaneau, Olivier O
Publication Date: 2022-11-05

Variant appearance in text: rs143840904
PubMed Link: 36335127
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34383.pdf
View BVdb publication page



Characterizing rare and low-frequency height-associated variants in the Japanese population.

Nature Communications
Akiyama, Masato M; Ishigaki, Kazuyoshi K; Sakaue, Saori S; Momozawa, Yukihide Y; Horikoshi, Momoko M; Hirata, Makoto M; Matsuda, Koichi K; Ikegawa, Shiro S; Takahashi, Atsushi A; Kanai, Masahiro M; Suzuki, Sadao S; Matsui, Daisuke D; Naito, Mariko M; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Tanno, Kozo K; Sasaki, Makoto M; Hozawa, Atsushi A; Minegishi, Naoko N; Wakai, Kenji K; Tsugane, Shoichiro S; Shimizu, Atsushi A; Yamamoto, Masayuki M; Okada, Yukinori Y; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y
Publication Date: 2019-09-27

Variant appearance in text: rs143840904
PubMed Link: 31562340
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12276.pdf
  • 41467_2019_12276_MOESM1_ESM.pdf
View BVdb publication page



Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.

Current Osteoporosis Reports
Muthuirulan, Pushpanathan P; Capellini, Terence D TD
Publication Date: 2019-10

Variant appearance in text: rs143840904
PubMed Link: 31441021
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epigenetic and genetic components of height regulation.

Nature Communications
Benonisdottir, Stefania S; Oddsson, Asmundur A; Helgason, Agnar A; Kristjansson, Ragnar P RP; Sveinbjornsson, Gardar G; Oskarsdottir, Arna A; Thorleifsson, Gudmar G; Davidsson, Olafur B OB; Arnadottir, Gudny A GA; Sulem, Gerald G; Jensson, Brynjar O BO; Holm, Hilma H; Alexandersson, Kristjan F KF; Tryggvadottir, Laufey L; Walters, G Bragi GB; Gudjonsson, Sigurjon A SA; Ward, Lucas D LD; Sigurdsson, Jon K JK; Iordache, Paul D PD; Frigge, Michael L ML; Rafnar, Thorunn T; Kong, Augustine A; Masson, Gisli G; Helgason, Hannes H; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Stefansson, Kari K
Publication Date: 2016-11-16

Variant appearance in text: rs143840904
PubMed Link: 27848971
Variant Present in the following documents:
  • Main text
  • ncomms13490-s1.pdf
  • ncomms13490-s8.pdf
  • ncomms13490.pdf
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Height-reducing variants and selection for short stature in Sardinia.

Nature Genetics
Zoledziewska, Magdalena M; Sidore, Carlo C; Chiang, Charleston W K CWK; Sanna, Serena S; Mulas, Antonella A; Steri, Maristella M; Busonero, Fabio F; Marcus, Joseph H JH; Marongiu, Michele M; Maschio, Andrea A; Ortega Del Vecchyo, Diego D; Floris, Matteo M; Meloni, Antonella A; Delitala, Alessandro A; Concas, Maria Pina MP; Murgia, Federico F; Biino, Ginevra G; Vaccargiu, Simona S; Nagaraja, Ramaiah R; Lohmueller, Kirk E KE; , ; Timpson, Nicholas J NJ; Soranzo, Nicole N; Tachmazidou, Ioanna I; Dedoussis, George G; Zeggini, Eleftheria E; , ; Uzzau, Sergio S; Jones, Chris C; Lyons, Robert R; Angius, Andrea A; Abecasis, Gonçalo R GR; Novembre, John J; Schlessinger, David D; Cucca, Francesco F
Publication Date: 2015-11

Variant appearance in text: rs143840904
PubMed Link: 26366551
Variant Present in the following documents:
  • Main text
  • emss-64788.pdf
View BVdb publication page