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: rs7565981
rs7565981 		1 1.000 0.120 2 100807869 intergenic variant G/A snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs773268484
rs773268484
AQP1
4 0.851 0.120 7 30922174 frameshift variant G/- delins 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs398122370
rs398122370
PRNP
4 0.925 0.160 20 4699851 missense variant G/C snv 0.830 1.000 13 1990 2010
dbSNP: rs11538758
rs11538758
PRNP
8 0.882 0.160 20 4699534 missense variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1473972013
rs1473972013
CYP4X1
3 0.925 0.160 1 47035911 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2245220
rs2245220
PRND
3 0.882 0.160 20 4725072 missense variant C/G;T snv 4.1E-06; 0.46 0.52 0.010 < 0.001 1 2004 2004
dbSNP: rs295301
rs295301 		5 0.851 0.160 3 141619799 downstream gene variant G/A snv 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs368821179
rs368821179
CARD14
3 0.925 0.160 17 80182758 missense variant T/C snv 8.0E-06 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs638405
rs638405
BACE1 ; BACE1-AS
4 0.851 0.160 11 117293108 synonymous variant C/G snv 0.49 0.46 0.010 1.000 1 2012 2012
dbSNP: rs74315405
rs74315405
PRNP
6 0.827 0.160 20 4699813 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs74315413
rs74315413
PRNP
8 0.807 0.160 20 4699780 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs753438778
rs753438778
CSF2
2 0.925 0.160 5 132074925 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs8074026
rs8074026
SERPINF2
3 0.882 0.160 17 1753779 intron variant T/C snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs193922906
rs193922906
PRNP
4 0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins 0.700 0
dbSNP: rs74315403
rs74315403
PRNP
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 0.955 22 1990 2015
dbSNP: rs1800014
rs1800014
PRNP
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.070 1.000 7 1998 2015
dbSNP: rs372805579
rs372805579
CARD14
5 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs74315402
rs74315402
PRNP
7 0.882 0.200 20 4699570 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs74315407
rs74315407
PRNP
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.870 1.000 18 1990 2016
dbSNP: rs74315409
rs74315409
PRNP
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.770 1.000 18 1990 2013
dbSNP: rs767181086
rs767181086
LAMC2
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.050 1.000 5 1997 2019
dbSNP: rs74315408
rs74315408
PRNP
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.900 1.000 27 1990 2019
dbSNP: rs752600356
rs752600356
APOE
4 0.851 0.280 19 44908681 missense variant G/A;C snv 2.3E-05 1.4E-05 0.020 1.000 2 2006 2006
dbSNP: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.900 1.000 44 1990 2019
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.040 1.000 4 1995 2013