rs63750687 in
PSEN1 gene and
Abnormal posture
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.
rs139455627 in
TSPEAR gene and
Abnormal posture
PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
rs1569151872 in
TSPEAR-AS1;TSPEAR gene and
Abnormal posture
PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
rs748787734 in
TUBB4A gene and
Abnormal posture
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.