Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139455627
rs139455627
TSPEAR
A 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
AA 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs63750687
rs63750687
PSEN1
T 0.700 GeneticVariation CLINVAR 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. 24121961

2014
dbSNP: rs748787734
rs748787734
TUBB4A
C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014
dbSNP: rs1553621496
rs1553621496
UNC80
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267606670
rs267606670
ATP1A3
T 0.700 CausalMutation CLINVAR