Disease: Sporadic CJD
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs75932628
LOC105375056 ; TREM2
0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 25
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 23
rs74315408
PRNP
0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 16
rs74315407
PRNP
0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 15
rs74315409
PRNP
0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 13
rs1800014
PRNP
0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 11
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs295301 0.851 0.160 3 141619799 downstream gene variant G/A snv 0.38 5
rs372805579
CARD14
0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 5
rs638405
BACE1 ; BACE1-AS
0.851 0.160 11 117293108 synonymous variant C/G snv 0.49 0.46 4
rs752600356
APOE
0.851 0.280 19 44908681 missense variant G/A;C snv 2.3E-05 1.4E-05 4
rs1473972013
CYP4X1
0.925 0.160 1 47035911 missense variant G/A snv 7.0E-06 3
rs2245220
PRND
0.882 0.160 20 4725072 missense variant C/G;T snv 4.1E-06; 0.46 0.52 3