NR1H4 c.-190+7064C>T

Variant ID: 12-100874901-C-T

NM_001206979.2(NR1H4):c.-190+7064C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Meta-analysis and field synopsis of genetic variants associated with the risk and severity of acute pancreatitis.

Bjs Open
van den Berg, F F FF; Kempeneers, M A MA; van Santvoort, H C HC; Zwinderman, A H AH; Issa, Y Y; Boermeester, M A MA
Publication Date: 2020-02

Variant appearance in text: rs11110390
PubMed Link: 32011822
Variant Present in the following documents:
  • BJS5-4-3-s002.xlsx, sheet 2
View BVdb publication page



Impact of global Fxr deficiency on experimental acute pancreatitis and genetic variation in the FXR locus in human acute pancreatitis.

Plos One
Nijmeijer, Rian M RM; Schaap, Frank G FG; Smits, Alexander J J AJ; Kremer, Andreas E AE; Akkermans, Louis M A LM; Kroese, Alfons B A AB; Rijkers, Ger T GT; Schipper, Marguerite E I ME; Verheem, André A; Wijmenga, Cisca C; Gooszen, Hein G HG; van Erpecum, Karel J KJ
Publication Date: 2014

Variant appearance in text: rs11110390
PubMed Link: 25470824
Variant Present in the following documents:
  • Main text
  • pone.0114393.pdf
View BVdb publication page



Farnesoid X receptor (FXR) activation and FXR genetic variation in inflammatory bowel disease.

Plos One
Nijmeijer, Rian M RM; Gadaleta, Raffaella M RM; van Mil, Saskia W C SW; van Bodegraven, Adriaan A AA; Crusius, J Bart A JB; Dijkstra, Gerard G; Hommes, Daan W DW; de Jong, Dirk J DJ; Stokkers, Pieter C F PC; Verspaget, Hein W HW; Weersma, Rinse K RK; van der Woude, C Janneke CJ; Stapelbroek, Janneke M JM; Schipper, Marguerite E I ME; Wijmenga, Cisca C; van Erpecum, Karel J KJ; Oldenburg, Bas B; ,
Publication Date: 2011

Variant appearance in text: rs11110390
PubMed Link: 21887309
Variant Present in the following documents:
  • Main text
  • pone.0023745.pdf
View BVdb publication page



Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.

American Journal Of Human Genetics
Ruel, Jérôme J; Emery, Sarah S; Nouvian, Régis R; Bersot, Tiphaine T; Amilhon, Bénédicte B; Van Rybroek, Jana M JM; Rebillard, Guy G; Lenoir, Marc M; Eybalin, Michel M; Delprat, Benjamin B; Sivakumaran, Theru A TA; Giros, Bruno B; El Mestikawy, Salah S; Moser, Tobias T; Smith, Richard J H RJ; Lesperance, Marci M MM; Puel, Jean-Luc JL
Publication Date: 2008-08

Variant appearance in text: rs11110390
PubMed Link: 18674745
Variant Present in the following documents:
  • Main text
View BVdb publication page