Talk:Rs59172778
From SNPedia
I carry the allegedly pathogenic (G;G) genotype, but no symptoms of Bartter syndrome. The only citation for the link to Bartter syndrome is a 1996 paper; two more recent appearances of the SNP in literature do not mention a pathogenic link. 82.31.95.13 10:17, 2 May 2017 (UTC)
- Yes, and this is consistent with the current SNP page text stating that this mutation is unlikely to be fully penetrant. So really the question is whether it is associated at all, as perhaps a mutation with relatively low penetrance, or, does it have no association whatsoever with Bartter and the original 1996 publication is wrong? We'll adjust the page and the associated genotypes to reflect this uncertainty. Thanks for calling attention to this. Greg (talk) 16:47, 2 May 2017 (UTC)
