FBN1 c.539-5930G>A

Variant ID: 15-48835935-C-T

NM_000138.4(FBN1):c.539-5930G>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

Plos Genetics
Tcheandjieu, Catherine C; Aguirre, Matthew M; Gustafsson, Stefan S; Saha, Priyanka P; Potiny, Praneetha P; Haendel, Melissa M; Ingelsson, Erik E; Rivas, Manuel A MA; Priest, James R JR
Publication Date: 2020-11

Variant appearance in text: rs589668
PubMed Link: 33226994
Variant Present in the following documents:
  • Main text
  • pgen.1008802.s003.xlsx, sheet 1
  • pgen.1008802.s004.xlsx, sheet 1
  • pgen.1008802.pdf
View BVdb publication page