Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516040
rs1057516040
NALCN
C 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

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: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553154130
rs1553154130
RERE
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
A 0.700 GeneticVariation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR