SCNN1G c.1176+210T>C

Variant ID: 16-23221379-T-C

NM_001039.3(SCNN1G):c.1176+210T>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs4499238
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Sodium sensitivity of blood pressure in Chinese populations.

Journal Of Human Hypertension
Liu, Yang Y; Shi, Mengyao M; Dolan, Jacquelyn J; He, Jiang J
Publication Date: 2020-02

Variant appearance in text: rs4499238
PubMed Link: 30631129
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: SCNN1G: 1176+210T>C; rs4499238
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Association of Genetic Variation in the Epithelial Sodium Channel Gene with Urinary Sodium Excretion and Blood Pressure.

Nutrients
Yang, Yoon Jung YJ; Kim, Jihye J; Kwock, Chang Keun CK
Publication Date: 2018-05-14

Variant appearance in text: rs4499238
PubMed Link: 29757959
Variant Present in the following documents:
  • Main text
  • nutrients-10-00612.pdf
View BVdb publication page



Genomics and pharmacogenomics of salt-sensitive hypertension Minireview.

Current Hypertension Reviews
Armando, Ines I; Villar, Van Anthony M VA; Jose, Pedro A PA
Publication Date: 2015

Variant appearance in text: rs4499238
PubMed Link: 28392754
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of epithelial sodium channel genes with blood pressure: the GenSalt study.

Journal Of Human Hypertension
Liu, F F; Yang, X X; Mo, X X; Huang, J J; Chen, J J; Kelly, T N TN; Hixson, J E JE; Rao, D C DC; Gu, C C CC; Shimmin, L C LC; Chen, J J; Rice, T K TK; Li, J J; Schwander, K K; He, J J; Liu, D-P DP; Gu, D D
Publication Date: 2015-04

Variant appearance in text: rs4499238
PubMed Link: 25231509
Variant Present in the following documents:
  • nihms-614943.pdf
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Single nucleotide polymorphism-single nucleotide polymorphism interactions among inflammation genes in the genetic architecture of blood pressure in the Framingham Heart Study.

American Journal Of Hypertension
Basson, Jacob J JJ; de Las Fuentes, Lisa L; Rao, Dabeeru C DC
Publication Date: 2015-02

Variant appearance in text: rs4499238
PubMed Link: 25063733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study.

Circulation. Cardiovascular Genetics
Zhao, Qi Q; Gu, Dongfeng D; Hixson, James E JE; Liu, De-Pei DP; Rao, Dabeeru C DC; Jaquish, Cashell E CE; Kelly, Tanika N TN; Lu, Fanghong F; Ma, Jixiang J; Mu, Jianjun J; Shimmin, Lawrence C LC; Chen, Jichun J; Mei, Hao H; Hamm, L Lee LL; He, Jiang J; ,
Publication Date: 2011-08-01

Variant appearance in text: rs4499238
PubMed Link: 21562341
Variant Present in the following documents:
  • Main text
View BVdb publication page