CFTR c.489+1053G>A

Variant ID: 7-117172221-G-A

NM_000492.3(CFTR):c.489+1053G>A

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.

Communications Biology
Qu, Hui-Qi HQ; Qu, Jingchun J; Bradfield, Jonathan J; Marchand, Luc L; Glessner, Joseph J; Chang, Xiao X; March, Michael M; Li, Jin J; Connolly, John J JJ; Roizen, Jeffrey D JD; Sleiman, Patrick P; Polychronakos, Constantin C; Hakonarson, Hakon H
Publication Date: 2021-07-23

Variant appearance in text: rs148505224
PubMed Link: 34302048
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2368.pdf
View BVdb publication page