PKD1 c.10500-1162C>T

Variant ID: 16-2145373-G-A

NM_001009944.2(PKD1):c.10500-1162C>T

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.

Plos Genetics
Kurki, Mitja I MI; Gaál, Emília Ilona EI; Kettunen, Johannes J; Lappalainen, Tuuli T; Menelaou, Androniki A; Anttila, Verneri V; van 't Hof, Femke N G FN; von Und Zu Fraunberg, Mikael M; Helisalmi, Seppo S; Hiltunen, Mikko M; Lehto, Hanna H; Laakso, Aki A; Kivisaari, Riku R; Koivisto, Timo T; Ronkainen, Antti A; Rinne, Jaakko J; Kiemeney, Lambertus A L LA; Vermeulen, Sita H SH; Kaunisto, Mari A MA; Eriksson, Johan G JG; Aromaa, Arpo A; Perola, Markus M; Lehtimäki, Terho T; Raitakari, Olli T OT; Salomaa, Veikko V; Gunel, Murat M; Dermitzakis, Emmanouil T ET; Ruigrok, Ynte M YM; Rinkel, Gabriel J E GJ; Niemelä, Mika M; Hernesniemi, Juha J; Ripatti, Samuli S; de Bakker, Paul I W PI; Palotie, Aarno A; Jääskeläinen, Juha E JE
Publication Date: 2014-01

Variant appearance in text: rs144159053
PubMed Link: 24497844
Variant Present in the following documents:
  • Main text
  • pgen.1004134.pdf
View BVdb publication page