Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1557055405
rs1557055405
ABCD1
A 0.700 GeneticVariation CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087

1998
dbSNP: rs772887102
rs772887102
RARS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs781417096
rs781417096
RARS2
G 0.700 CausalMutation CLINVAR

dbSNP: rs869025221
rs869025221
RARB
C 0.700 GeneticVariation CLINVAR