Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906711
rs387906711
UBQLN2
0.010 GeneticVariation BEFREE The P506S index case presented with behavioral variant frontotemporal dementia at the age of 54 years then progressed to ALS surviving 3 years. 30348461

2019
dbSNP: rs753325601
rs753325601
TREM2 ; LOC105375056
0.010 GeneticVariation BEFREE Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. 29748150

2018
dbSNP: rs1768208
rs1768208
MOBP
0.010 GeneticVariation BEFREE The rs1768208 risk polymorphism in MOBP may have prognostic value in bvFTD. 24994843

2014
dbSNP: rs8070723
rs8070723
MAPT
0.010 GeneticVariation BEFREE Eighty-one patients with sporadic bvFTD were genotyped for tauopathy-associated SNPs at rs8070723 (microtubule-associated protein tau [MAPT]) and rs1768208 (myelin-associated oligodendrocyte basic protein [MOBP]). 24994843

2014
dbSNP: rs80356718
rs80356718
TARDBP
0.010 GeneticVariation BEFREE The TDP-43 p.N267S substitution has been previously implicated in both amyotrophic lateral sclerosis and behavioral variant frontotemporal dementia. 23231971

2013
dbSNP: rs1423300240
rs1423300240
FUS
0.010 GeneticVariation BEFREE We identified 2 novel heterozygous missense mutations in FUS: P106L (g.22508384C>T) in a patient with behavioral variant frontotemporal dementia (bvFTD) and Q179H in several members of a family with behavioral variant FTD. 21943958

2012
dbSNP: rs157590
rs157590
TOMM40
0.010 GeneticVariation BEFREE Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was observed in PPA, but not in bvFTD and in controls. 22710912

2012
dbSNP: rs2075650
rs2075650
TOMM40
0.010 GeneticVariation BEFREE Inside this region of 26.9 kb, LD (r2 ≥ 0.50) between TOMM40 (rs2075650) and APOE (rs429358) was observed in bvFTD</span> and in controls, but not in PPA. 22710912

2012
dbSNP: rs374191107
rs374191107
FUS
0.010 GeneticVariation BEFREE We identified 2 novel heterozygous missense mutations in FUS: P106L (g.22508384C>T) in a patient with behavioral variant frontotemporal dementia (bvFTD) and Q179H in several members of a family with behavioral variant FTD. 21943958

2012
dbSNP: rs429358
rs429358
APOE
0.010 GeneticVariation BEFREE Inside this region of 26.9 kb, LD (r2 ≥ 0.50) between TOMM40 (rs2075650) and APOE (rs429358) was observed in bvFTD and in controls, but not in PPA. 22710912

2012