rs1057516040 in
NALCN gene and
Overfolded helix
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs63750687 in
PSEN1 gene and
Overfolded helix
PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.