CSMD1 c.85+18064T>C

Variant ID: 8-4833790-A-G

NM_033225.5(CSMD1):c.85+18064T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.

Nature Communications
Lee, Arthur S AS; Rusch, Jannette J; Lima, Ana C AC; Usmani, Abul A; Huang, Ni N; Lepamets, Maarja M; Vigh-Conrad, Katinka A KA; Worthington, Ronald E RE; Mägi, Reedik R; Wu, Xiaobo X; Aston, Kenneth I KI; Atkinson, John P JP; Carrell, Douglas T DT; Hess, Rex A RA; O'Bryan, Moira K MK; Conrad, Donald F DF
Publication Date: 2019-10-11

Variant appearance in text: rs7463166
PubMed Link: 31604923
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12522.pdf
View BVdb publication page



Age at menarche and lung function: a Mendelian randomization study.

European Journal Of Epidemiology
Gill, Dipender D; Sheehan, Nuala A NA; Wielscher, Matthias M; Shrine, Nick N; Amaral, Andre F S AFS; Thompson, John R JR; Granell, Raquel R; Leynaert, Bénédicte B; Real, Francisco Gómez FG; Hall, Ian P IP; Tobin, Martin D MD; Auvinen, Juha J; Ring, Susan M SM; Jarvelin, Marjo-Riitta MR; Wain, Louise V LV; Henderson, John J; Jarvis, Deborah D; Minelli, Cosetta C
Publication Date: 2017-08

Variant appearance in text: rs7463166
PubMed Link: 28624884
Variant Present in the following documents:
  • 10654_2017_272_MOESM2_ESM.pdf
View BVdb publication page