Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2012 2012
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.800 1.000 15 1999 2019
dbSNP: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.800 0.944 18 1995 2019
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.860 1.000 7 2008 2015
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs74315408
rs74315408
PRNP
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.740 1.000 11 1993 2018
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs74315407
rs74315407
PRNP
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.720 1.000 2 2011 2015
dbSNP: rs3851179
rs3851179 		15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs74315409
rs74315409
PRNP
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.730 1.000 3 2010 2013
dbSNP: rs1800014
rs1800014
PRNP
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.030 1.000 3 2000 2015
dbSNP: rs767181086
rs767181086
LAMC2
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 1.000 14 2002 2019
dbSNP: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.720 1.000 2 1993 1999
dbSNP: rs74315413
rs74315413
PRNP
8 0.807 0.160 20 4699780 missense variant A/G snv 0.720 1.000 2 2000 2010
dbSNP: rs3865444
rs3865444
CD33
8 0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs74315402
rs74315402
PRNP
7 0.882 0.200 20 4699570 missense variant C/T snv 0.750 1.000 5 1999 2014
dbSNP: rs393152
rs393152
LINC02210 ; LINC02210-CRHR1
7 0.851 0.160 17 45641777 non coding transcript exon variant A/G snv 0.18 0.29 0.700 1.000 1 2012 2012
dbSNP: rs74315405
rs74315405
PRNP
6 0.827 0.160 20 4699813 missense variant T/C snv 0.720 0.500 2 1996 2016
dbSNP: rs372805579
rs372805579
CARD14
5 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.020 1.000 2 1999 2013
dbSNP: rs74315414
rs74315414
PRNP
5 0.882 0.200 20 4699533 missense variant C/A;T snv 4.0E-06 0.720 1.000 2 2008 2011
dbSNP: rs16990018
rs16990018
PRNP
5 0.882 0.120 20 4699732 missense variant A/G snv 3.8E-03 1.6E-02 0.010 1.000 1 2011 2011