KCNK13 c.335-54158C>A

Variant ID: 14-90596297-C-A

NM_022054.3(KCNK13):c.335-54158C>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

European Journal Of Human Genetics : Ejhg
Fadista, João J; Lund, Marie M; Skotte, Line L; Geller, Frank F; Nandakumar, Priyanka P; Chatterjee, Sumantra S; Matsson, Hans H; Granström, Anna Löf AL; Wester, Tomas T; Salo, Perttu P; Virtanen, Valtter V; Carstensen, Lisbeth L; Bybjerg-Grauholm, Jonas J; Hougaard, David Michael DM; Pakarinen, Mikko M; Perola, Markus M; Nordenskjöld, Agneta A; Chakravarti, Aravinda A; Melbye, Mads M; Feenstra, Bjarke B
Publication Date: 2018-04

Variant appearance in text: rs3861656
PubMed Link: 29379196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ancestors' dietary patterns and environments could drive positive selection in genes involved in micronutrient metabolism-the case of cofactor transporters.

Genes & Nutrition
Parolo, Silvia S; Lacroix, Sébastien S; Kaput, Jim J; Scott-Boyer, Marie-Pier MP
Publication Date: 2017

Variant appearance in text: rs3861656
PubMed Link: 29043008
Variant Present in the following documents:
  • Main text
  • 12263_2017_Article_579.pdf
View BVdb publication page