Disease: GRN-related frontotemporal dementia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv 42
rs75932628
LOC105375056 ; TREM2
0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs143624519
MAPT
0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 17
rs5848
FAM171A2 ; GRN
0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 17
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs121909335
VCP
0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 9
rs2234253
TREM2 ; LOC105375056
0.827 0.120 6 41161367 missense variant G/A;C;T snv 1.9E-04; 1.0E-02 5
rs747019990
PRNP
0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06 4