F2 c.806A>C ;(p.E269A)

Variant ID: 11-46747655-A-C

NM_000506.3(F2):c.806A>C;(p.E269A)

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:

Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk.

Nature Genetics
Capellini, Terence D TD; Chen, Hao H; Cao, Jiaxue J; Doxey, Andrew C AC; Kiapour, Ata M AM; Schoor, Michael M; Kingsley, David M DM
Publication Date: 2017-08

Variant appearance in text: F2: E269A
PubMed Link: 28671685
Variant Present in the following documents:
  • Main text
  • nihms-884460.pdf
View BVdb publication page